RESUMEN
Silvery hair is a characteristic finding of 3 rare autosomal recessive disorders: Chédiak-Higashi syndrome (CHS), Elejalde syndrome (ES), and Griscelli syndrome (GS). We report the case of a 2-month-old male infant with transient silvery hair and generalized hypopigmentation of the skin and eyes who did not have one of these classic causative disorders. The patient was delivered at 35 weeks' gestation with congenital hydrops fetalis associated with a chromosomal abnormality (46,XY,add[2],[p23]), hypothyroidism, hypoproteinemia, and hypogammaglobulinemia. Over the course of follow-up, spontaneous brown repigmentation of the silvery hair was noted. We concluded that the silvery hair was induced by hypoproteinemia secondary to congenital hydrops fetalis.
Asunto(s)
Enfermedades del Cabello/patología , Hipopigmentación/patología , Agammaglobulinemia/complicaciones , Aberraciones Cromosómicas , Hipotiroidismo Congénito/complicaciones , Enfermedades del Cabello/complicaciones , Humanos , Hidropesía Fetal , Hipopigmentación/complicaciones , Hipoproteinemia/complicaciones , Lactante , Masculino , Remisión EspontáneaAsunto(s)
Eosina Amarillenta-(YS) , Granulomatosis con Poliangitis/diagnóstico , Hematoxilina , Piel/patología , Adulto , Fibrina/metabolismo , Técnica del Anticuerpo Fluorescente Directa , Granulomatosis con Poliangitis/fisiopatología , Granulomatosis con Poliangitis/terapia , Humanos , Masculino , Coloración y Etiquetado/métodosRESUMEN
Menkes disease is an X-linked recessive lethal multisystemic disorder of copper metabolism. Progressive neurodegeneration, connective tissue disturbances, and peculiar kinky hair are the main manifestations. The low serum copper and ceruloplasmin suggests the diagnosis, which is confirmed by mutation analysis of the ATP7A gene. We report an exceptional presentation of classic Menkes disease with neonatal erythroderma. Genetic study revealed a deletion in exons 8 to 12 in the ATP7A gene. This study could allow pediatricians and pediatric dermatologists to diagnose the disorder as early as possible to establish prompt treatment with parenteral copper-histidine supplementation to improve prognosis.
Asunto(s)
Dermatitis Exfoliativa/etiología , Síndrome del Pelo Ensortijado/diagnóstico , Adenosina Trifosfatasas/genética , Proteínas de Transporte de Catión/genética , ATPasas Transportadoras de Cobre , Resultado Fatal , Marcadores Genéticos , Humanos , Recién Nacido , Masculino , Síndrome del Pelo Ensortijado/complicaciones , Síndrome del Pelo Ensortijado/genética , Eliminación de SecuenciaRESUMEN
Therapy with TNF blockers may induce cutaneous adverse events, but the development of morphea, a localized scleroderma lesion, is extremely infrequent. We describe a 37-year-old man with ankylosing spondylitis treated with adalimumab who developed morphea lesions in the lower limbs after 12 months of treatment. Adalimumab was discontinued, which resulted in progressive improvement in the skin lesions, with only mild hyperpigmentation remaining. We also review reports of morphea and other adverse cutaneous events related to anti-TNF treatment.