Isotretinoin treatment of autosomal recessive congenital ichthyosis complicated by coexisting dysferlinopathy.
Clin Exp Dermatol
; 41(4): 390-3, 2016 Jun.
Article
em En
| MEDLINE
| ID: mdl-26620441
ABSTRACT
Consanguinity is known to be associated with an increase in the prevalence of autosomal recessive disorders such as autosomal recessive congenital ichthyosis (ARCI). ARCI often responds well to retinoid treatment. We describe a patient with ARCI who improved under isotretinoin treatment. The patient subsequently developed elevated levels of serum creatinine phosphokinase (CPK), which led to the diagnosis of a second autosomal recessive disorder, dysferlinopathy, a rare myopathy characterized by muscle weakness, decreased tendon reflexes and marked elevation of CPK levels. This report demonstrates the need for physicians to remain alert to the possible coexistence of rare and mutually relevant disorders in populations with a high rate of consanguinity.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Isotretinoína
/
Eritrodermia Ictiosiforme Congênita
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Ictiose Lamelar
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Distrofia Muscular do Cíngulo dos Membros
Tipo de estudo:
Etiology_studies
/
Risk_factors_studies
Limite:
Adolescent
/
Female
/
Humans
Idioma:
En
Revista:
Clin Exp Dermatol
Ano de publicação:
2016
Tipo de documento:
Article
País de afiliação:
Israel