RESUMO
INTRODUCTION: Cold-induced sweating syndrome type 1 (CISS1) is a rare autosomal recessive genodermatosis caused by mutations in the CRLF1 gene, characterized by profuse sweating when the ambient temperature is below 22°C and morphological alterations. CRLF1 mutations also cause Crisponi syndrome (CS), which presents neonatal muscle contractions, morphological disorders and alterations in the autonomous nervous system. CASE REPORT: A 30-year-old man sought treatment for profuse sweating. His medical record included neonatal admission for generalized hypertonicity. Clinical examination revealed morphological alterations. A genetic study was requested, detecting a c.713dupC mutation in homozygosity in the CRLF1 gene. CONCLUSIONS: We report the case of a male with clinical and genetic diagnosis of CISS1 who in childhood presented clinical characteristics of CS. The mutation detected in CRLF1 has not been described in patients with CISS1, but in one with CS. These data seem to support the theory that CS and CISS1 are variants of the same disorder.
Assuntos
Anormalidades Múltiplas/genética , DNA/metabolismo , Febre/genética , Deformidades Congênitas da Mão/genética , Hiperidrose/genética , Mutação , Receptores de Citocinas/genética , Trismo/congênito , Anormalidades Múltiplas/metabolismo , Anormalidades Múltiplas/fisiopatologia , Adulto , Análise Mutacional de DNA , Morte Súbita , Fácies , Febre/metabolismo , Deformidades Congênitas da Mão/metabolismo , Homozigoto , Humanos , Hiperidrose/metabolismo , Hiperidrose/fisiopatologia , Masculino , Contração Muscular/genética , Receptores de Citocinas/metabolismo , Sudorese , Trismo/genética , Trismo/metabolismoRESUMO
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