ABSTRACT Blastic plasmacytoid dendritic cell neoplasia (BCDPN) is a rare and generally aggressive hematological malignancy, which requires early recognition. Below, the clinical course of a 72-year-old patient with NCDPB is described, whose most relevant findings included the presence of skin lesions, organomegaly, and bone marrow infiltration. After the diagnosis, systemic chemotherapy was indicated, with a good response; however, after 2 months the lesions recurred and the patient died. In this disease it is necessary to establish the differential diagnosis with lymphoproliferative disorders, lymphoid and acute myeloid leukemias, with the morphological analysis of the neoplastic cells being an important aspect for adequate diagnostic guidance.

RESUMEN La neoplasia de células dendríticas plasmocitoides blásticas (NCDPB) es una malignidad hematológica poco frecuente y generalmente agresiva, por lo cual se requiere su reconocimiento precoz. A continuación, se describe el curso clínico de una paciente de 72 años con NCDPB, en cuyos hallazgos más relevantes destacó la presencia de lesiones cutáneas, organomegalias, infiltración de la médula ósea. Posterior al diagnóstico se indicó quimioterapia sistémica, con buena respuesta, no obstante, a los 2 meses presentó recidiva de lesiones y la paciente falleció. En esta enfermedad es necesario establecer el diagnóstico diferencial con trastornos linfoproliferativos, leucemias linfoides y mieloides agudas, constituyendo el análisis morfológico de las células neoplásicas un aspecto importante para una adecuada orientación diagnóstica.

ABSTRACT We report the case of a patient with psoriasis vulgaris who presented worsening of the disease after infection with Chikungunya, with no improvement of the outbreak with the usual treatment for psoriasis, in whom a diagnosis of classic Hodgkin lymphoma was subsequently made. Chemotherapy treatment was started and a complete improvement of the skin lesions of psoriasis was observed.

RESUMEN Divulgamos el caso de una paciente con psoriasis vulgar que presento empeoramiento de la misma luego de infección por Chikungunya, sin mejoría del brote con el tratamiento habitual de la psoriasis, en quien posteriormente se realiza el diagnóstico de Linfoma Hodgkin tipo clásico. Se inició tratamiento quimioterápico y se observó una mejoría completa de las lesiones cutáneas de la psoriasis.

Abstract Objective To analyze risk factors (maternal, obstetric and demographic) associated with congenital syphilis and the clinical characteristics of the newborns. Method A cross-sectional study carried out in ten public maternity hospitals in Fortaleza, Ceará, Brazil that included cases of live births reported with congenital syphilis in 2015. Results 469 cases were analyzed; 199 (42.4 %) showed some sign or symptom suggestive of congenital syphilis; of these, 65 (32.7 %) were preterm, 87 (43.7 %) had low birth weight, 116 (58.3 %) had jaundice that required phototherapy, 13 (6.5 %) had hepatomegaly, 10 (5 %) had skin lesions, eight (4.0 %) had splenomegaly and one (0.5 %) had limb pseudoparalysis. Records of other clinical changes were identified in 36 (7.7 %) children. Children whose mothers were not treated or who received a drug other than penicillin and those whose mothers had a VDRL titer ≥ 1:16 at birth were 3.7 and 3.2 times more likely to be born with signs of congenital syphilis (p < 0.001- 95 % CI 2.41-5.58; p < 0.001 - 95 % CI 2.41-5.58) respectively. Conclusions The findings of this study draw attention to the importance of improving the quality of prenatal care and the development of studies aimed at finding alternative drugs for the treatment of syphilis in pregnant women and the prevention of congenital syphilis. maternal, maternal (maternal demographic newborns crosssectional cross sectional Fortaleza Ceará 2015 46 analyzed 19 42.4 424 42 4 (42. these 6 32.7 327 32 7 (32. preterm 8 43.7 437 43 (43. weight 11 58.3 583 58 3 (58. phototherapy 1 6.5 5 (6. hepatomegaly ( lesions 4.0 40 0 (4. 0.5 05 (0. pseudoparalysis 7.7 77 (7. children 16 1:1 37 3. 2 0001 001 9 2.415.58 241558 2.41 5.58 41 2.41-5.58 0.00 respectively 201 42. (42 32. (32 43. (43 58. (58 6. (6 4. (4 0. (0 7. (7 1: 000 00 415 2.415.5 24155 241 2.4 558 5.5 2.41-5.5 0.0 20 (3 2.415. 2415 24 2. 55 5. 2.41-5. 2.415 2.41-5 2.41-

Resumen La queratodermia espinosa palmar es una mani festación dermatológica infrecuente que se presenta de forma esporádica o hereditaria. Se trata de lesiones hiperqueratósicas milimétricas en palmas y/o plantas, habitualmente asintomáticas. Histopatológicamente consisten en columnas de paraqueratosis bien delimi tadas sobre un estrato córneo adelgazado. Los casos esporádicos se pueden asociar a enfermedades crónicas o neoplasias. Presentamos un caso de queratodermia espinosa palmar en un hombre en la séptima década de la vida con cirrosis secundaria a colangitis esclero sante primaria y hepatocarcinoma. Presentó remisión de las lesiones cutáneas a los dos meses de realizarse un trasplante hepático. Este comportamiento favorece la interpretación de la queratodermia espinosa como manifestación paraneoplásica del hepatocarcinoma. No hemos encontrado informes previos de queratodermia espinosa en Argentina. Realizamos una revisión de la literatura sobre esta entidad.

Abstract Spiny keratoderma is a rare dermatological manifes tation that occurs sporadically or hereditarily. These are millimetric hyperkeratotic lesions on the palms and/or soles, usually asymptomatic. Histopathologically, they consist of well-defined columns of parakeratosis on a thinned stratum corneum. Sporadic cases can be asso ciated with chronic diseases or neoplasms. We present a case of palmar spiny keratoderma in a man in the seventh decade of life with cirrhosis due to primary sclerosing cholangitis, and hepatocellular carcinoma. He had remission of the skin lesions two months after performing a liver transplant. This behavior favors the interpretation of spiny keratoderma as a paraneoplastic manifestation of hepatocellular carcinoma. We have not found previous reports of spiny keratoderma from Argentina. We review the literature on this entity.

Abstract Introduction: Vasculitis is a heterogeneous group of immune-mediated diseases defined by the inflammation of blood vessels. They can affect vessels of any caliber, resulting in various signs and symptoms, making the diagnosis difficult. This case report shows the importance of anamnesis and careful objective examination, paying attention to potential triggering factors, namely medication intake. Case description: Male, 71 years old, with a personal history of arterial hypertension, hypertriglyceridemia, and benign prostatic hypertrophy, medicated with losartan + amlodipine and dutasteride + tamsulosin. The patient sought consultation due to a condition compatible with an uncomplicated lower respiratory infection. A diagnosis of community-acquired pneumonia was made, and he was medicated with amoxicillin 500 mg 8/8 h for seven days, with improvement of the symptoms. However, on the tenth day after starting antibiotic treatment started with progressive worsening, with prostration, bilateral subconjunctival haemorrhage, and the appearance of new macular lesions, painful to the touch, dispersed in the palms of the hands and ventral face of the wrists. In the blood tests alterations suggestive of inflammation and autoimmunity were highlighted, which led to a presumed diagnosis of amoxicillin hypersensitivity vasculitis and was medicated with corticosteroid therapy with symptomatic improvement. Comment: In this case, the multisystemic presentation and the positive response to corticosteroid therapy points to a diagnosis of vasculitis. Skin lesions associated with episcleritis, and asthenia are more suggestive of small vessel vasculitis. This is potentially secondary to a hypersensitivity reaction to the medication with amoxicillin, considering the temporal evolution of the condition, suggestive of an association. To carry out this difficult diagnosis, the general practitioner, by the nature of his work, accompanying the patient longitudinally, is uniquely qualified to identify cases with temporal evolution and associations between pathologies and previous medications.

Resumo Introdução: As vasculites são um grupo heterogéneo de doenças imunomediadas definidas pela inflamação dos vasos sanguíneos. Podem afetar vasos de qualquer calibre, resultando numa ampla variedade de sinais e sintomas, o que dificulta o seu diagnóstico. O caso clínico apresentado mostra a importância de uma anamnese e exame objetivo cuidados, atentando em potenciais fatores desencadeadores, nomeadamente a toma de medicação. Descrição do caso: Homem, 71 anos, com antecedentes pessoais de hipertensão arterial, hipertrigliceridemia e hipertrofia benigna da próstata, medicado com losartan + amlodipina e dutasterida + tansulosina. Recorreu à consulta por quadro compatível com infeção respiratória baixa, não complicada. Foi feito o diagnóstico de pneumonia adquirida na comunidade e medicado com amoxicilina 500 mg 8/8 h durante sete dias, com melhoria sintomática. Contudo, ao décimo dia após iniciar antibiótico inicia um agravamento progressivo com prostração, hemorragia subconjuntival bilateral e surgimento de novo de lesões maculares dolorosas ao toque dispersas nas palmas das mãos e face ventral dos punhos. Nas análises destacavam-se alterações sugestivas de inflamação e autoimunidade, pelo que se presumiu diagnóstico de vasculite de hipersensibilidade à amoxicilina, tendo sido medicado com corticoterapia com melhoria sintomática. Comentário: Neste caso, a apresentação multissistémica e com boa resposta à corticoterapia aponta para um diagnóstico de vasculite. As lesões cutâneas associadas a episclerite e astenia são mais sugestivas de vasculite dos pequenos vasos. Esta é potencialmente secundária a uma reação de hipersensibilidade à medicação com amoxicilina, tendo em conta a evolução temporal do quadro, sugestiva de associação. Para realizar este difícil diagnóstico, o médico de família, pela natureza do seu trabalho e acompanhando longitudinalmente o doente, está capacitado para identificar casos com evolução temporal e associações entre patologias e medicações anteriores.

A previously healthy 35-year-old male belonging to the men who have sex with men (MSM) community, practising both penetrative and receptive anal sex for the past 10 years, and with no travel history outside South Africa, presented initially with a prodrome of fever, sore throat, night sweats, myalgia and fatigue. A week after the onset of these nonspecific symptoms, the patient noted painless, non-pruritic skin lesions measuring 2 - 15 mm in diameter on the dorsum of his hands. Three days later he developed rigors, watery diarrhoea and similar lesions on his genital and perianal areas. A week later, the patient presented to the emergency department with extensive lesions encompassing almost his entire body. He was admitted with suspected mpox infection. Imaging showed extensive lymphadenopathy, and the diagnosis was confirmed by mpox polymerase chain reaction testing. During the admission, he was also newly diagnosed with HIV infection. Treatment with tecovirimat was initiated, and the patient recovered, albeit with significant depigmentation and scarring.

Abstract Background Tuberous sclerosis complex (TSC) is a multisystem neurocutaneous syndrome with variable phenotypes. Recent updates of TSC diagnostic criteria reaffirmed the defined genetic diagnostic criterion as the finding of a pathogenic DNA alteration in either TSC1 or TSC2 genes. It also slightly modified definite clinical diagnostic criteria. TSC-associated skin lesions in infancy are important clinical signs to select individuals with possible TSC for a closer clinical follow-up and genetic testing. Objective To raise awareness of the updated TSC diagnosis criteria; to assess the frequency of skin lesions in TSC patients as well as the first dermatological presentation; and to associate the findings with either TSC1 or TSC2 mutations. Methods Observational cross-sectional study. Clinical and genetic data were retrospectively collected from 37 TSC patients from a Brazilian University Hospital. Patients with skin signs were examined and prospectively assessed for 12 months. Results The earliest cutaneous lesions were hypomelanotic macules, which together with angiofibromas were the most frequent dermatological lesions. The total pathogenic DNA alteration ratio between TSC2 and TSC1 genes was 8:1. The frequency of a TSC2 pathogenic variant was 10-fold greater in the presence of ungual fibromas. Study limitations Small sample and a limited number of patients with TSC1 pathogenic variants. Conclusion Clinicians should be knowledgeable about TSC updated diagnostic criteria. Patients need to be followed up by a multidisciplinary team and treated accordingly. Early detection of cutaneous lesions is important for TSC diagnosis. A significant association between TSC2 gene pathogenic alterations and ungual fibromas is described. (TSC phenotypes TSCassociated associated followup follow testing presentation mutations crosssectional cross sectional study 3 Hospital 1 months macules 81. 81 8 1. 8:1 10fold fold 10 variants accordingly described 8:

Abstract Prurigo is a reactive, hyperplastic skin condition characterized by pruritic papules, plaques, and/or nodules. The temporal classification includes acute/subacute and chronic disease (≥ 6 weeks), with different clinical variants, synonymies, and underlying etiological factors. The immunology of chronic prurigo shows similarities with atopic dermatitis due to the involvement of IL-4 and IL-13, IL-22, and IL-31. Treatment includes antihistamines, topical steroids, dupilumab, and JAK inhibitors. Several conditions manifest clinically as prurigo-like lesions, and the correct clinical diagnosis must precede correct treatment. Furthermore, chronic prurigos represent a recalcitrant and distressing dermatosis, and at least 50% of these patients have atopic diathesis, the treatment of which may induce adverse effects, especially in the elderly. The quality of life is significantly compromised, and topical treatments are often unable to control symptoms and skin lesions. Systemic immunosuppressants, immunobiologicals, and JAK inhibitors, despite the cost and potential adverse effects, may be necessary to achieve clinical improvement and quality of life. This manuscript reviews the main types of prurigo, associated diseases, their immunological bases, diagnosis, and treatment. reactive papules plaques andor or nodules acutesubacute acute subacute ≥ ( weeks, weeks , weeks) variants synonymies factors IL4 IL 4 IL- IL13, IL13 13, 13 IL-13 IL22, IL22 22, 22 IL-22 IL31. IL31 31. 31 IL-31 antihistamines steroids dupilumab inhibitors prurigolike like lesions Furthermore dermatosis 50 diathesis effects elderly compromised immunosuppressants immunobiologicals diseases bases IL1 1 IL-1 IL2 2 IL-2 IL3 3 IL-3 5

Resumo O sarcoma de Ewing extraesquelético (SEE) é um tumor primário incomum dos tecidos moles profundos. Clinicamente, as lesões cutâneas costumam ter crescimento rápido, agressivo, com risco de metástase, sendo mais comum na região paravertebral e nos membros inferiores. O diagnóstico definitivo é feito através do estudo anatomopatológico. Apresenta-se neste relato o caso de uma paciente de 21 anos, com tumoração em flanco direito há 2 meses, submetida a abordagens cirúrgicas em serviço de pronto atendimento, evoluindo com piora progressiva do quadro.

Abstract Extraskeletal Ewing’s sarcoma is an unusual primary tumor of the deep soft tissues. Clinically, skin lesions are usually fast-growing and aggressive, with a risk of metastasis, and are more common in the paravertebral region and lower limbs. The ultimate diagnosis is made by anatomopathological study. This report describes the case of a 21-year-old patient with a tumor on her right flank that had been present for the past 2 months. She underwent surgery in an emergency department and progressively became more ill.

Resumo O eritema elevatum diutinum (EED) é uma forma rara de vasculite leucocitoclásica cutânea crónica, que se caracteriza pelo aparecimento de pápulas, placas ou nódulos eritematosos na pele. As lesões surgem tipicamente nas superfícies extensoras dos membros, como cotovelos, joelhos e tornozelos. O EED está frequentemente associado a outras doenças sistémicas, tais como doenças autoimunes, infeções e doenças malignas, principalmente hematológicas. Reportamos um caso de EED relativo a um homem Caucasiano de 41 anos de idade, com diagnóstico previamente desconhecido de infeção por HIV. O tratamento foi realizado com dapsona oral, resultando na regressão total das lesões após cerca de um ano de tratamento.

Abstract Erythema elevatum diutinum (EED) is a rare form of chronic cutaneous leukocytoclastic vasculitis that is characterized by the appearance of red or purplish papules, plaques, or nodules on the skin. These lesions are typically found on the extensor surfaces of the limbs, such as the elbows, knees, and ankles. EED is frequently associated with other systemic diseases, such as autoimmune diseases, infections, and malignant diseases, particularly hematologic abnormalities. We report a case of EED in a 41-year-old Caucasian male with a previously unknown diagnosis of HIV infection. The treatment was performed with oral dapsone, resulting in complete regression of the lesions after 1 year of treatment.

Resumo É descrito o caso de um recém-nascido de termo, do sexo masculino, fruto de gestação vigiada sem intercorrências. Ao exame objetivo, o rapaz apresentou uma mácula hiperpigmentada, de coloração castanho claro, homogénea, com mais de 15 cm, compatível com nevo melanocítico congénito (NMC) gigante, tendo sido referenciado para a consulta de Neonatologia e Dermatologia. Desde então, tem apresentado crescimento e desenvolvimento psicomotor adequados e exame neurológico e ressonância magnética cranioencefálica sem alterações. O NMC é uma proliferação benigna de melanócitos, de coloração castanha, que forma tecas/ninhos na junção dermoepidérmica e/ou derme. Pode estar presente ao nascimento ou surgir nos primeiros dois anos de vida em qualquer localização. Os NMCs podem ser classificados em pequenos, médios, grandes, gigantes ou múltiplos. O NMC gigante é raro e representa um fator de risco para melanoma. A abordagem do NMC depende da idade e do tamanho do nevo, entre outros fatores. Dado o potencial de malignidade, o NMC gigante requer vigilância clínica com acompanhamento do neurodesenvolvimento e dermatoscopia regular e abordagem cirúrgica precoce perante lesões suspeitas.

Abstract The authors report the case of a male term newborn born after an uneventful monitored pregnancy. On physical examination, he presented with a light brown hyperpigmented homogeneous macule >15 cm in size compatible with a giant congenital melanocytic nevus (CMN). The boy was discharged with indication for Neonatology and Dermatology follow-up. Since then, he has shown adequate psychomotor growth and development and unremarkable neurologic examination and cranioencephalic magnetic resonance imaging. CMN is a benign proliferation of melanocytes forming theca/nests in the dermal-epidermal junction and/or dermis. It may be present at birth or develop during the first two years of life in any body area. CMN can be classified as small, medium, large, giant, or multiple. Giant CMN is rare and is a risk factor for melanoma. Management of CMN should be based on age, nevus size, and other factors. Because of the potential for malignancy, giant CMN requires clinical surveillance with neurodevelopmental monitoring and regular dermoscopy, as well as early surgical management of suspicious lesions.

ABSTRACT Introduction: Incontinence pigmenti is a low-frequency neurocutaneous genetic disease with variable expressivity and a dominant inheritance pattern linked to the X chromosome, occurring almost exclusively in females, and is considered a lethal gene in males hemizygous for the skin lesions present at birth that evolve in different stages, and may be associated with other alterations such as neurological and ocular disorders. Patient information: Two-year-old female patient, who from birth was referred to the Genodermatosis clinic for lesions in the form of pigmented lines all over the body that only spared the face, with good psychomotor development, without other clinical manifestations. Conclusions: Making an early diagnosis with multidisciplinary follow-up facilitates the detection of complications that could appear in other systems associated with this disease. Carry out timely preventive therapeutic actions; They are essential for a favorable prognosis in the patient's evolution, allowing adequate genetic counseling for the family.

RESUMEN Introducción: la incontinencia pigmenti es una enfermedad genética neurocutánea de baja frecuencia con expresividad variable y un patrón de herencia dominante ligada al cromosoma X que se presenta casi exclusivamente en féminas y que se considera un gen letal en varones hemicigóticos para el cromosoma X. Se caracteriza por lesiones cutáneas presentes al nacimiento que evolucionan en diferentes estadios y puede estar asociado a otras alteraciones como las neurológicas y las oculares. Información del paciente: paciente femenina de dos años de edad que desde el nacimiento fue remitida a la Consulta de Genodermatosis por lesiones en forma de líneas pigmentadas por todo el cuerpo que solo respetaban la cara, con buen desarrollo psicomotor, sin otras manifestaciones clínicas. Conclusiones: realizar un diagnóstico precoz con un seguimiento multidisciplinario facilita la detección de complicaciones que pudieran aparecen en otros sistemas asociadas a esta enfermedad. Las acciones terapéuticas preventivas oportunas son indispensables para un pronóstico favorable en la evolución del paciente y permiten un adecuado asesoramiento genético a la familia.

Resumo O complexo da esclerose tuberosa (CET) é uma doença autossômica dominante caracterizada pelo desenvolvimento de hamartomas no sistema nervoso central, coração, pele, pulmões e rins e outras manifestações, incluindo convulsões, tubérculos corticais, linhas de migração radial, autismo e deficiência cognitiva. A doença está associada a variantes patogênicas nos genes TSC1 ou TSC2, resultando na hiperativação da via mTOR, um importante regulador do crescimento e metabolismo celular. Consequentemente, a hiperativação da via mTOR leva à proliferação anormal do tecido e ao desenvolvimento de tumores sólidos. O envolvimento renal no CET é caracterizado pelo desenvolvimento de lesões císticas, carcinoma de células renais e angiomiolipomas renais, que podem progredir e causar dor, sangramento e perda da função renal. Nos últimos anos, houve uma mudança notável na abordagem terapêutica do CET, especialmente no tratamento das manifestações renais. Os inibidores de mTOR surgiram como a principal opção terapêutica, enquanto intervenções cirúrgicas como nefrectomia e embolização são reservadas principalmente para complicações que não respondem ao tratamento clínico, como hemorragia renal grave. Esta revisão se concentra nas principais características clínicas do CET, nos mecanismos subjacentes ao envolvimento renal, nos recentes avanços na terapia para lesões renais e nas perspectivas futuras. (CET central coração pele convulsões corticais radial cognitiva TSC TSC2 celular Consequentemente sólidos císticas dor anos clínico grave futuras

Abstract Tuberous sclerosis complex (TSC) is an autosomal dominant disease characterized by the development of hamartomas in the central nervous system, heart, skin, lungs, and kidneys and other manifestations including seizures, cortical tubers, radial migration lines, autism and cognitive disability. The disease is associated with pathogenic variants in the TSC1 or TSC2 genes, resulting in the hyperactivation of the mTOR pathway, a key regulator of cell growth and metabolism. Consequently, the hyperactivation of the mTOR pathway leads to abnormal tissue proliferation and the development of solid tumors. Kidney involvement in TSC is characterized by the development of cystic lesions, renal cell carcinoma and renal angiomyolipomas, which may progress and cause pain, bleeding, and loss of kidney function. Over the past years, there has been a notable shift in the therapeutic approach to TSC, particularly in addressing renal manifestations. mTOR inhibitors have emerged as the primary therapeutic option, whereas surgical interventions like nephrectomy and embolization being reserved primarily for complications unresponsive to clinical treatment, such as severe renal hemorrhage. This review focuses on the main clinical characteristics of TSC, the mechanisms underlying kidney involvement, the recent advances in therapy for kidney lesions, and the future perspectives. (TSC system heart skin lungs seizures tubers lines disability genes metabolism Consequently tumors lesions angiomyolipomas pain bleeding function years option treatment hemorrhage perspectives

Abstract Introduction: Porphyrias are enzymatic disorders of heme synthesis. Acute hepatic porphyrias (AHP) presents with acute neurovisceral symptoms such as abdominal pain, nausea, vomiting, constipation, muscle weakness, neuropathy, tachycardia, and hypertension. 5-aminolevulinic acid dehydratase (ALAD) deficiency is a rare autosomal recessive disorder that results in little or no elevation of porphobilinogen but elevates urinary 5-aminolevulinic acid and coproporphyrin III. There are no records of this type of porphyria in Colombia. Acute management requires comprehensive care, ranging from hemotherapy to liver transplantation. Case Presentation: A 24-year-old man with no prior medical history presented with a recurrent and acute episode of abdominal pain associated with changes in urine color, skin lesions, diarrhea, and dysregulation of body temperature. Initial paraclinical workup ruled out common causes of recurrent abdominal pain, with a negative porphobilinogen test, but further testing revealed elevated 5-aminolevulinic acid, confirming the diagnosis of ALAD porphyria. The patient showed improvement with hemotherapy and remission of acute kidney injury. A possible distractor associated with interstitial nephritis and skin manifestations related to nonsteroidal anti-inflammatory drug (NSAID) use was documented. Conclusions: ALAD porphyria and all acute hepatic porphyrias should be considered in any patient presenting with unexplained recurrent severe abdominal pain and neuropathy. Despite their relative rarity and complexity, most porphyrias can be easily defined and diagnosed. A common cause of diagnostic delay is the failure to consider porphyria in the differential diagnosis on time. There is still much to learn about ALAD porphyria.

Resumen Introducción: Las porfirias son trastornos enzimáticos de la síntesis del hemo. Las porfirias hepáticas agudas (PHA) se presentan con síntomas neuroviscerales agudos, como dolor abdominal, náuseas, vómitos, estreñimiento, debilidad muscular, neuropatía, taquicardia e hipertensión. La deficiencia de ácido 5-aminolevulínico deshidratasa (ALAD) es un trastorno autosómico recesivo raro que provoca poca o ninguna elevación de porfobilinógeno, pero eleva el ácido 5-aminolevulínico y la coproporfirina III urinaria. No hay registros de este tipo de porfiria en Colombia. En la fase aguda requiere manejo integral, desde hemoterapia hasta trasplante hepático. Presentación del caso: Hombre de 24 años sin antecedentes que cursaba con un cuadro recurrente y agudizado de dolor abdominal asociado a cambios en la coloración en la orina, lesiones cutáneas, deposiciones diarreicas y distermias. Dentro de su abordaje con paraclínicos previos se descartaron causas de dolor abdominal recurrente iniciales, con porfobilinógeno negativo, y se completó el estudio con 5-aminolevulínico elevado, lo que configuró la clínica de porfiria por ALAD, con mejoría ante la hemoterapia y remisión de lesión renal aguda. Se documentó el distractor asociado posible de nefritis intersticial y manifestaciones en la piel derivadas del consumo de antiinflamatorios no esteroideos (AINE). Conclusiones: Se debe considerar la porfiria por ALAD y todas las porfirias hepáticas agudas en cualquier paciente que presente recurrencia inexplicable de dolor abdominal grave y neuropatía. A pesar de su relativa rareza y complejidad, la mayoría de las porfirias se pueden definir y diagnosticar fácilmente. Una de las causas más frecuentes en el retraso diagnóstico radica en no considerar este diagnóstico en los diferenciales de manera oportuna. Aún falta mucho por conocer de la porfiria por ALAD.

Abstract Blue Rubber Bleb Nevus Syndrome (BRBNS) is an extremely rare and likely hereditary condition characterized by the presence of numerous hemangiomatous lesions that are purplish, raised, and elastic, primarily affecting the skin and the digestive system. These lesions become prominent and rubbery to the touch. BRBNS can also affect other organs. Clinically, it may be asymptomatic or present with painful skin lesions, hyperhidrosis, abdominal pain, gastrointestinal bleeding, anemia, and hematuria, among other signs and symptoms. Treatment options include conservative management, pharmacological intervention, endoscopic procedures, or surgery. This report presents the clinical case of a 22-year-old woman with a history of BRBNS affecting the skin and lips but with no gastrointestinal symptoms. She is under dermatological follow-up and management. The patient was seen on an outpatient basis at the endoscopy unit of Unión de Cirujanos S.A.S. in Manizales, Colombia, at the Clinical-Surgical Gastroenterology Service of the Universidad de Caldas. An upper digestive endoscopy (EVDA) and ileocolonoscopy were performed to rule out the presence of similar lesions in the gastrointestinal tract. The EVDA revealed vascular, raised, rubbery lesions at the base of the tongue and in the supraglottic region, with no involvement of the esophagus, stomach, or duodenum. The ileocolonoscopy showed multiple vascular, raised lesions in the cecum, transverse colon, and descending colon.

Resumen El síndrome de blue rubber bleb nevus (BRBNS), o síndrome del nevus gomoso azul, es un cuadro sumamente raro y probablemente hereditario que se basa en la presencia de numerosas lesiones hemangiomatosas, violáceas, sobreelevadas y elásticas, sobre todo en la piel y el sistema digestivo, las cuales se hacen prominentes y de consistencia gomosa al tacto. También puede afectar otros órganos. Clínicamente puede cursar asintomático o manifestarse con lesiones dolorosas en la piel, hiperhidrosis, dolor abdominal, sangrado digestivo, anemia y hematuria, entre otros signos y síntomas. Su tratamiento puede ser conservador, farmacológico, endoscópico o quirúrgico. Se presenta el caso clínico de una mujer de 22 años de edad, con antecedente BRBNS en la piel y los labios, sin síntomas digestivos, que se encuentra en seguimiento y manejo por dermatología. Fue atendida ambulatoriamente en la unidad de endoscopia de Unión de Cirujanos S. A. S. en Manizales, Colombia, Servicio de Gastroenterología Clínico-Quirúrgica de la Universidad de Caldas, donde se le realizó una endoscopia de vías digestivas altas (EVDA) e ileocolonoscopia con el objetivo de descartar la presencia de lesiones similares en el tracto gastrointestinal. En la EVDA se evidenciaron lesiones de aspecto vascular moraliforme en la base de la lengua y en la región supraglótica, sin compromiso del esófago, estómago ni duodeno. En la ileocolonoscopia se observaron varias lesiones de aspecto vascular moraliforme en el ciego, el colon transverso y el colon descendente.