RESUMO
Abstract Background: Familial progressive hyper- and hypopigmentation (FPHH) is a rare genodermatosis that is characterized by diffuse hyper- and hypopigmented spots on the skin and mucous membranes. It is caused by a pathogenic mutation of the KITLG gene. Objectives: To investigate the clinical features and mutation of the KITLG gene in a Chinese family with FPHH. Methods: Histopathological and immunohistochemical analysis of lesions from the proband was performed. The KITLG gene was screened for the presence of mutations. Results: A Chinese family containing 14 individuals with FPHH was described, and the proband was a 5-year-old girl showing diffuse hyper- and hypopigmented lesions on her extremities and trunk. Histopathological and immunohistochemical staining for S100 and HMB45 of skin biopsy specimens from the hyperpigmented areas showed a striking increase in melanin throughout the epidermis, especially in the basal cell layer, and staining of hypopigmented area specimens displayed lower levels of melanin in the epidermis. Mutation analysis of the KITLG gene was performed, but no mutation was found. Study limitations: The new pathogenic gene was not found. Conclusion: A family with FPHH was described. Analysis revealed that its members did not have any mutations of the KITLG gene, which provided evidence for genetic heterogeneity of this genodermatosis.
Assuntos
Humanos , Masculino , Feminino , Pré-Escolar , Hipopigmentação/genética , Hiperpigmentação/genética , Heterogeneidade Genética , Mutação/genética , Linhagem , Imuno-Histoquímica , Hipopigmentação/patologia , Hiperpigmentação/patologia , Povo AsiáticoRESUMO
Chediak-Higashi syndrome (CHS) is a rare autosomal recessive immunodeficiency disease characterized by frequent infections, hypopigmentation, progressive neurologic deterioration and hemophagocytic lymphohistiocytosis (HLH), known as the accelerated phase. There is little experience in the accelerated phase of CHS treatment worldwide. Here, we present a case of a 9-month-old boy with continuous high fever, hypopigmentation of the skin, enlarged lymph nodes, hepatosplenomegaly and lung infection. He was diagnosed with CHS by gene sequencing, and had entered the accelerated phase. After 8 weeks of therapy, the boy had remission and was prepared for allogenic stem cell transplantation.
Assuntos
Humanos , Masculino , Lactente , Síndrome de Chediak-Higashi/tratamento farmacológico , Síndrome de Chediak-Higashi/genética , Mutação da Fase de Leitura , Síndrome de Chediak-Higashi/patologia , Diagnóstico Tardio , Cabelo/patologia , Hipopigmentação/genética , Hipopigmentação/patologia , Linfo-Histiocitose Hemofagocítica/genética , Pneumonia/diagnóstico por imagem , Pneumonia/genética , Pele/patologia , Resultado do TratamentoRESUMO
Abstract Dyspigmentation along the Blaschko lines is strongly suggestive of a mosaic skin disorder. We report a 9-year-old male patient who presented with swirls and streaks of both hypo and hyperpigmentation involving the entire body. Additionally, he had hypertrichosis, musculoskeletal and minor neurodevelopment abnormalities but no intellectual disability. Cultured fibroblast displayed trisomy 7 mosaicism, which can explain this pigmentary phenotype. Widespread dyspigmentation associated with involvement of other organs should prompt systemic examination to detect additional anomalies and genetic evaluation should be considered, even with normal fetal karyotype.
Assuntos
Humanos , Masculino , Criança , Anormalidades da Pele/patologia , Trissomia/patologia , Hipopigmentação/genética , Hipopigmentação/patologia , Hiperpigmentação/genética , Hiperpigmentação/patologia , Síndrome , Cromossomos Humanos Par 7 , Hipertricose/genética , Hipertricose/patologia , MosaicismoAssuntos
Criança , Masculino , Hipopigmentação/congênito , Hipopigmentação/epidemiologia , Hipopigmentação/genética , Hiperpigmentação/congênito , Hiperpigmentação/epidemiologia , Hiperpigmentação/genética , Masculino , Doenças do Sistema Nervoso/epidemiologia , Transtornos da Pigmentação/congênito , Transtornos da Pigmentação/epidemiologia , Transtornos da Pigmentação/genéticaRESUMO
Los mosaicismos pigmentarios son enfermedades névicas caracterizadas por la presencia en piel de máculas híper o hipopigmentadas de distribución según patrones clínicos preestablecidos. En ocasiones presentan asociaciones extracutáneas que alteran el desarrollo normal del individuo. Presentamos una recopilación de todos los casos de mosaicismos pigmentarios evaluados en nuestro Servicio en laúltima década