Results 71 to 80 of about 4,625 (171)

Case report: Exploring autosomal recessive woolly hair: genetic and scanning electron microscopic perspectives on a Japanese patient

Frontiers in Medicine
Woolly hair (WH) is a hair shaft anomaly characterized by tightly curled hair that typically stops growing at a few inches. Autosomal recessive WH (ARWH; OMIM no.
Satoko Minakawa, Satoko Minakawa, Yasushi Matsuzaki, Toshihide Higashino, Tamio Suzuki, Hirofumi Tomita, Eijiro Akasaka, Daisuke Sawamura   +7 more
doaj   +1 more source

Olmsted syndrome

Indian Journal of Dermatology, 2008
Olmsted syndrome is a rare disorder characterized by the combination of periorificial, keratotic plaques and bilateral palmoplantar keratoderma. New associated features are being reported. Olmsted syndrome is particularly rare in a female patient, and we
Kumar Pramod, Sharma P, Kar H
doaj  

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

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

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  

CDH3 Mutation in Saudi Arabia: A Case of Hypotrichosis With Juvenile Macular Dystrophy. [PDF]

Cureus
Danish E, Alsulami R, Baeshen H.
europepmc   +1 more source

ST14 syndromic epidermal differentiation disorder: A case report of a homozygous recessive variant with photosensitivity. [PDF]

JAAD Case Rep
Elhofy N, Almukhaimar SK, Alyaseen SY, Aldandan AW, Al-Mulhem MA.   +4 more
europepmc   +1 more source

Hypotrichosis simplex [PDF]

, 2020
openaire   +1 more source