RESUMO
Congenital hemangiomas (CH) are benign vascular tumors that are present at birth and do not stain for the marker Glut-1. Herein, we describe five cases of CH with atypical presentations: 3 with late growth, 1 with slow involution, and 1 that partially involuted rapidly then manifested late growth.
Assuntos
Hemangioma , Neoplasias Cutâneas , Neoplasias Vasculares , Corantes , Hemangioma/diagnóstico , Humanos , Lactente , Recém-Nascido , Fenótipo , Neoplasias Cutâneas/diagnósticoRESUMO
Autosomal recessive congenital ichthyosis (ARCI) is a group of rare non-syndrome diseases that affect cornification. PNPLA1 is one of the 12 related genes identified so far. Mutation screening of this gene has resulted in the identification of 13 individuals, from 10 families, who carried 7 different PNPLA1 mutations. These mutations included 2 missense, 2 frame-shift and 3 nonsense, 3 of them being novel. One of the identified variants, c.417_418delinsTC, was highly prevalent, as it was found in 6 out of 10 (60%) of our ARCI families with PNPLA1 mutations. Clinical manifestations varied significantly among patients, but altered sweating; erythema, palmar hyperlinearity and small whitish scales in flexor-extensor and facial areas were common symptoms. Haplotype analyses of c.417_418delinsTC carriers confirmed the existence of a common ancestor. This study expands the spectrum of the PNPLA1 disease, which causes variants and demonstrates that the c.417_418delinsTC mutation has founder effects in the Spanish population.
Assuntos
Efeito Fundador , Ictiose Lamelar/genética , Lipase/genética , Mutação , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Predisposição Genética para Doença , Humanos , Ictiose Lamelar/diagnóstico , Ictiose Lamelar/enzimologia , Masculino , Pessoa de Meia-Idade , Fenótipo , Fatores de Risco , EspanhaAssuntos
Antibacterianos/efeitos adversos , Clindamicina/efeitos adversos , Hidradenite Supurativa/tratamento farmacológico , Adesão à Medicação/estatística & dados numéricos , Rifampina/efeitos adversos , Administração Oral , Adulto , Fatores Etários , Antibacterianos/administração & dosagem , Clindamicina/administração & dosagem , Quimioterapia Combinada , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Rifampina/administração & dosagem , FumarRESUMO
The skin is one of the most frequent tissues affected in patients with mastocytosis, but cutaneous lesions are highly heterogeneous in shape, size, color, number, localization, and distribution. The World Health Organization recognizes 3 subtypes of cutaneous mastocytosis (CM): maculopapular CM (MPCM), diffuse CM, and mastocytoma of skin. An international task force of experts in mastocytosis has recently proposed subdividing MPCM into monomorphic and polymorphic, which could predict the duration of the disease in children. More research is warranted to develop an improved classification of CM that ideally should incorporate robust factors with prognostic impact on disease behavior.
