ABSTRACT
Objective@#To report a case of Carvajai syndrome caused by a spontaneous mutation in the desmoplakin (DSP) gene.@*Methods@#Clinical data were collected form a patient with Carvajal syndrome in Department of Dermatology, The First Affiliated Hospital of Zhengzhou University. Peripheral blood samples were obtained from the proband, his parents and 100 unrelated healthy controls, and blood genomic DNA was extracted. The ion torrent PGM second-generation sequencing platform was used to detect sequence variations in coding regions of exons in skin disease-related genes in the proband and his parents, and the pathogenic variation was verified by PCR-Sanger sequencing.@*Results@#The proband clinically presented with woolly hair, diffuse palmoplantar keratoderma, onychodysplasia, hypodontia and sinus arrhythmia as shown by electrocardiogram. Gene sequencing revealed a heterozygous missense mutation c.1790C>T (p.Ser597Leu) in exon 14 of the DSP gene in the proband, resulting in the substitution of serine by leucine at amino acid position 597. No mutation was identified in the proband′s parents or the 100 healthy controls, so the mutation in the proband is spontaneous. The patient was finally diagnosed with Carvajal syndrome according to the clinical manifestations, gene detection and auxiliary examination results.@*Conclusion@#The heterozygous missense mutation C.1790C>T (p.Ser597Leu) of the DSP gene may be the pathogenic mutation for the clinical phenotype of the patient.
ABSTRACT
Introducción: El pelo lanoso (PL) es una rara alteración del tallo piloso que puede ser localizada o generalizada y puede asociarse a alteraciones cutáneas o extracutáneas. Objetivo: Analizar un cuadro clínico de muy escasa frecuencia y enfatizar la importancia del examen físico en el enfrentamiento de ésta. Caso clínico: Preescolar de tres años de edad con pelo fino, claro, corto y rizado. En los antecedentes familiares, destacaba la madre con historia de alopecia desde la infancia y disminución de la velocidad de crecimiento del pelo del cuero cabelludo; cuadro compatible con pelo lanoso generalizado forma hereditaria, sin anomalías asociadas. Conclusiones: El pelo lanoso es una rara anormalidad del tallo piloso. El diagnóstico de certeza se obtiene mediante la microscopía electrónica, sin embargo, el uso de la dermatoscopía constituye una buena herramienta diagnóstica en la práctica diaria. Puede asociarse a anomalías cutáneas y extracutáneas, por lo cual el enfrentamiento clínico y estudio complementario es primordial para descartar anomalías asociadas.
Introduction: Woolly hair (WH) is a rare abnormality of the hair shaft that can be localized or generalized and may be associated with cutaneous or extracutaneous abnormalities. Objective: To analyze a rare clinical case and emphasize the importance of physical examination. Case report: A three year old child with fine, light, short and curly hair is reported. Regarding family history, his mother reports alopecia since childhood and decreased growth rate of the hair of the scalp. The clinical picture is compatible with generalized hereditary woolly hair without associated anomalies. Conclusions: Woolly hair is a rare abnormality of the structure of the scalp hair. Electron microscopy allows the definitive diagnosis, however the use of dermoscopy is a practical and effective diagnostic tool in everyday practice.
Subject(s)
Humans , Male , Child, Preschool , Hair/abnormalities , Hair/pathology , Hair/ultrastructure , Hair Follicle/abnormalities , Hair Follicle/pathology , Hair Follicle/ultrastructure , Microscopy, ElectronABSTRACT
Woolly hair is normal for most black people, but it is usually abnormal for persons of a non-African or non-Negroid background. A 5-year-old girl visited our clinic complaining of a hair abnormality. Her hair had been tightly curled, fine, and hypopigmented on the entire scalp since birth. Her uncle's son had similar abnormalities of his scalp hairs. On the scanning electron microscopy, the patient's hair revealed cuticular damage with splintering. To the best of our knowledge, this is the first description of a patient with woolly hair who has familial history in Korea.
Subject(s)
Humans , Hair , Korea , Microscopy, Electron, Scanning , Parturition , Child, Preschool , ScalpABSTRACT
Woolly hair is the presence of Negroid hair on the scalp of non-Negroid people. We report a rare case of woolly hair on a 14-year-old Korean girl who presented with tightly-curled, fine and light brown hair which she had had since birth. Light microscopy disclosed flattening of the hair shafts with partial twists at irregular intervals. On scanning electron microscopy, the patient's hair revealed weathered cuticles, and twisted and flattened hair shafts.
Subject(s)
Adolescent , Female , Humans , Hair , Microscopy , Microscopy, Electron, Scanning , Parturition , Scalp , WeatherABSTRACT
We report a case of woolly hair. Woolly hair is found frequently in most blacks but is unusual in individuals of non-negroid origin. A 12-year-old female patient visited our clinic complaining of a hair abnormality. It had been tightly curled, fine, light brown, short and easily broken since birth. On scanning electron microscopy, many of the hairs showed damaged cuticles with cuticular splintering, and most hair shafts were round to oval on cross sectional examination.