Cell-trafficking impairment in disease-associated LPA6 missense mutants and a potential pharmacoperone therapy for autosomal recessive woolly hair/hypotrichosis.
Sign Up to like & getrecommendations! Published in 2022 at "Human molecular genetics"
DOI: 10.1093/hmg/ddac244
Abstract: In human autosomal recessive woolly hair/hypotrichosis (ARWH/HT), many mutations have been identified in a gene encoding LPA6, a G protein-coupled receptor (GPCR) for lysophosphatidic acid (LPA). However, information regarding the effects of such mutations on… read more here.
Keywords: pharmacoperone therapy; recessive woolly; woolly hair; hair hypotrichosis ... See more keywords
A young girl with curly hair
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Paediatrics and Child Health"
DOI: 10.1111/jpc.2_14656
Abstract: The clinical and microscopic features of her scalp hair were consistent with the diagnosis of generalised woolly hair. Woolly hair is a rare congenital structural abnormality of scalp hair characterised by severe kinkiness of hair… read more here.
Keywords: hair; young girl; carvajal huerta; huerta syndrome ... See more keywords
Woolly hair, palmoplantar keratoderma, skin fragility, and perioral fissures in a toddler
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DOI: 10.1111/pde.13711
Abstract: A 2‐year‐old girl was brought to us for the evaluation of sparse curly scalp hair and rough palms and soles since early infancy. The parents also gave history of blisters and erosions at sites of… read more here.
Keywords: skin fragility; skin; palmoplantar keratoderma; keratoderma skin ... See more keywords
A Case of Progressive Evolution of Multiple Woolly Hair Nevi in a Child
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DOI: 10.4103/ijt.ijt_27_18
Abstract: Woolly hair nevus is a rarely acquired disorder of the scalp hair with well-circumscribed patch of curly and unruly hairs which are smaller in diameter than normal surrounding hair. We report a case of progressively… read more here.
Keywords: hair; child; case; woolly hair ... See more keywords
Woolly Hair Nevus Type 2: Rare Entity
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DOI: 10.4103/ijt.ijt_28_18
Abstract: Woolly hair nevus is a rare non hereditary disorder of scalp characterized by curling and kinking of hair. It can present in childhood or adolescent age. Dermoscopy is a useful noninvasive technique to help in… read more here.
Keywords: nevus type; rare entity; hair nevus; woolly hair ... See more keywords