RESUMO
OBJECTIVE: To determine the causative gene mutation in a family with monilethrix and observe the therapeutic effect of 5% topical minoxidil. METHOD: Clinical data from a family with monilethrix were collected. Peripheral blood samples were taken from the proband, the parents, and 100 unrelated healthy controls. Genomic DNA was extracted. The genetic variation sites were screened with exome sequencing and verified by Sanger sequencing. The proband was treated with 5% topical minoxidil (1 mL twice daily). Hair quality was examined by dermoscopy before and after treatment. RESULTS: The proband and her father have the heterozygous missense variant c.1204G > A (p.E402K) in exon 7 of the KRT86 gene. However, the mutation was not found in the mother and healthy controls. The proband was treated with 5% topical minoxidil. Hair density and hair shaft quality improved significantly after 6 months of treatment. No adverse events occurred during treatment. CONCLUSION: This study shows that p.E402K is a mutation "hot spot" in patients with autosomal dominant monilethrix in China. Treatment with 5% topical minoxidil, is safe and effective.
Assuntos
Monilétrix , Humanos , Feminino , Monilétrix/tratamento farmacológico , Monilétrix/genética , Minoxidil/uso terapêutico , Mutação , Cabelo , Mães , Alopecia/tratamento farmacológico , Alopecia/genética , Administração TópicaRESUMO
Monilethrix is a rare hereditary condition generally considered to be an autosomal dominant disorder with variable penetrance. A case of a 6-year-old girl without a familial background for this disease is reported. The diagnosis was made by optic microscopy and dermoscopy. A therapeutic trial with topical minoxidil was conducted.
Assuntos
Dermoscopia/métodos , Monilétrix/patologia , Administração Cutânea , Criança , Feminino , Humanos , Hipotricose/tratamento farmacológico , Hipotricose/patologia , Minoxidil/uso terapêutico , Monilétrix/tratamento farmacológico , Resultado do TratamentoRESUMO
Monilethrix is a rare hereditary condition generally considered to be an autosomal dominant disorder with variable penetrance. A case of a 6-year-old girl without a familial background for this disease is reported. The diagnosis was made by optic microscopy and dermoscopy. A therapeutic trial with topical minoxidil was conducted.
Assuntos
Criança , Feminino , Humanos , Dermoscopia/métodos , Monilétrix/patologia , Administração Cutânea , Hipotricose/tratamento farmacológico , Hipotricose/patologia , Minoxidil/uso terapêutico , Monilétrix/tratamento farmacológico , Resultado do TratamentoRESUMO
In literature many different therapies are proposed to treat Monilethrix, but a definitive therapy still doe not exist. We decided to treat four patients affected by Monilethrix, with topical minoxidil 2%, 1 ml night and day for 1 year. Minoxidil led to a an increase of normal hair shaft without any side effects in all the patients. Therefore topical minoxidil 2% could be considered a good therapy to treat Monilethrix.
