Results 101 to 110 of about 5,635 (205)

New syndrome of hypotrichosis, striate palmoplantar keratoderma, acro-osteolysis and periodontitis not due to mutations in cathepsin C

, 2002
Item does not contain fulltextWe report a mother and daughter with a syndrome of hypotrichosis, striate palmoplantar keratoderma, onychogryphosis, periodontitis, acro-osteolysis and psoriasis-like skin lesions.
Steijlen, P.M., M.A.M. Van Steensel, M. Van Geel, Steensel, M.A.M. van, Geel, M. van, P.M. Steijlen   +5 more
core   +1 more source

Hereditary Ectodermal Dysplasia in Two Identical Siblings

Acta Medica Bulgarica
Primary defects in two or more ectodermally-derived tissues during embryonic development characterize ectodermal dysplasia, a vast, varied group of inherited illnesses. Skin, hair, nails, eccrine glands, and teeth are the primary tissues affected.
Sarkar A. S., Rao K., Ajila V.
doaj   +1 more source

Olmsted syndrome with hypotrichosis.

Indian journal of dermatology, venereology and leprology, 2012
Olmsted syndrome is characterised by mutilating palmoplantar keratoderma with peri-orificial hyperkeratosis. We report the case of an 8-year old boy who presented with severe keratoderma of the soles since birth and of the palms from the age of 3 years. At 3 years of age hyperkeratotic plaques appeared on the elbows and knees.
D, Dogra, J S, Ravindraprasad, N, Khanna, R K, Pandhi   +3 more
openaire   +1 more source

Congenital Hypotrichosis in a Child [PDF]

Proceedings of the Royal Society of Medicine, 1933
openaire   +2 more sources

Hypotrichosis in a child with olmsted syndrome

Indian Dermatology Online Journal, 2018
David Polly, Hima Gopinath, Kaliaperumal Karthikeyan   +2 more
openaire   +3 more sources

Autosomal Recessive Woolly Hair Caused by LIPH Mutations: A Case Series of Six Chinese Patients

Clinical, Cosmetic and Investigational Dermatology
Can Cui,* Xi Chen,* Ying-Zi Zhang, Jian-Yi Ni, Jin-Yuan Ma, Ai-Hua Wei Department of Dermatology, Beijing Tongren Hospital, Capital Medical University, Beijing, 100730, People’s Republic of China*These authors contributed equally ...
Cui C, Chen X, Zhang YZ, Ni JY, Ma JY, Wei AH   +5 more
doaj  

Microscopic and ultrastructural study of the hair shaft: Significance and limits in diagnosis and of congenital hypotrichosis classification

, 1981
The authors point out the most common hypotrichosis associated with structural alterations of the hair shaft. Suggested is a classification based on the typization of the most frequent ultrastructural defects.
S.Menni, C.Crosti
core   +2 more sources

Hypotrichosis simplex [PDF]

, 2020
openaire   +1 more source

A Case of SREBF1-Associated Ichthyosis Follicularis, Alopecia, and Photophobia Syndrome With Recurrent Alopecia. [PDF]

J Dermatol
Park JY, Lee HJ, Huh CH.
europepmc   +1 more source

Novel variants in LSS related hypotrichosis simplex 14. [PDF]

Front Genet
Hua S, Fang B, Cheng Y, Zhang X, Zhang Y, Qian Q, Zhang J.   +6 more
europepmc   +1 more source