Erythema nodosum as azathioprine hypersensitivity reaction in a patient with bullous pemphigoid.

A 65-year-old woman with bullous pemphigoid presented with fever and several red-purple nodular subcutaneous lesions on both lower legs 1 week after starting treatment with azathioprine (AZA). Biopsy of a skin nodule was compatible with erythema nodosum (EN) and hypersensitivity reaction to AZA was suspected. AZA was subsequently discontinued, observing complete remission of fever and EN within 2 weeks. This case highlights the importance of recognizing EN as a possible manifestation of hypersensitivity reaction to AZA.

Successful treatment of congenital erythropoietic porphyria using matched unrelated hematopoietic stem cell transplantation.

Congenital erythropoietic porphyria (CEP), or Günther's disease, is an inborn error of metabolism produced by a deficiency of uroporphyrinogen III synthase (UROS), the fourth enzyme of the heme biosynthesis pathway. This enzymatic defect induces the accumulation of isomer I porphyrins in erythrocytes, skin, and tissues, producing various clinical manifestations. Severe cases are characterized by extreme photosensitivity, causing scarring and mutilations, and by hemolytic anemia, reducing life expectancy. CEP is caused by mutations in the UROS gene, and one of the most severe forms of the disease is associated with a cysteine to arginine substitution at residue 73 of the protein (C73R). CEP has been successfully treated only by the transplantation of hematopoietic precursors. We report the case of a male infant with severe postdelivery symptoms diagnosed with CEP and found to be homozygous for the C73R mutation. He underwent successful allogeneic bone marrow transplantation from a matched unrelated donor at 7 months of age. The hemolytic anemia was corrected and the porphyrin overproduction was significantly reduced. The patient remained asymptomatic after 1 year. This new case confirms that patients with severe CEP can benefit from early postnatal hematopoietic stem cell transplantation.

LEOPARD syndrome: what are café noir spots?

Lentigines, electrocardiographic abnormalities, ocular hypertelorism, pulmonary stenosis, abnormalities of genitalia, retarded growth, and deafness syndrome (multiple lentigines syndrome) is most often characterized by multiple lentigines and cardiac conduction defects. Café noir spot is a term proposed, by analogy to café au lait spots, for the larger and darkly pigmented patches that are frequently observed in patients with this syndrome. Although presumed by some authors to represent lentigines, the histologic features of café noir spots have not been well documented in the literature. Only two previous cases have been reported in which a biopsy of the café noir spots than melanocytic nevi. We describe the histologic characteristics of seven café noir spots in six patients with lentigines, electrocardiographic abnormalities, ocular hypertelorism, pulmonary stenosis, abnormalities of genitalia, retarded growth, and deafness syndrome. Three lesions represented melanocytic nevi (one with dysplastic features), and four were compatible with lentigo simplex. These findings help our understanding of the histologic spectrum of pigmented lesions in lentigines, electrocardiographic abnormalities, ocular hypertelorism, pulmonary stenosis, abnormalities of genitalia, retarded growth, and deafness syndrome.

Placas eritematosas escamosas faciales / Erythematous scaly facial plaques

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Telangiectasia nevoide unilateral / Unilateral nevoid telangiectasia

Una paciente de 22 años consultó por lesiones vasculares telangiectásicas en hemicara izquierda de 3 años de evolución con características clínicas e histológicas de telangiectasia nevoide unilateral. Se caracteriza por una agrupación de telangiectasias de distribución segmentaria que clásicamente se ha relacionado con estados de hiperestrogenismo. En nuestro caso, y en concordancia con otros autores, la distribución de las lesiones sigue un patrón según las líneas de Blaschko y no metamérico (AU)

Evolución inusual de un nódulo de los ordeñadores en un trasplantado renal / Unusual evolution of milker's nodule in a kidney trasplant recipient

Un varón de 47 años desarrolló a los 7 meses de un segundo trasplante renal un nódulo de los ordeñadores que tardó 6 meses en involucionar espontáneamente en lugar de las 4 a 6 semanas habituales (AU)