Results 71 to 80 of about 4,504 (171)

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  

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

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

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  

Hypotrichosis simplex [PDF]

, 2020
openaire   +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

Ichthyosis-hypotrichosis syndrome [PDF]

, 2020
openaire   +1 more source

ADAM17 variant causes hair loss via ubiquitin ligase TRIM47–mediated degradation

JCI Insight
Hypotrichosis is a genetic disorder characterized by a diffuse and progressive loss of scalp and/or body hair. Nonetheless, the causative genes for several affected individuals remain elusive, and the underlying mechanisms have yet to be fully elucidated.
Xiaoxiao Wang, Chaolan Pan, Luyao Zheng, Jianbo Wang, Quan Zou, Peiyi Sun, Kaili Zhou, Anqi Zhao, Qiaoyu Cao, Wei He, Yumeng Wang, Ruhong Cheng, Zhirong Yao, Si Zhang, Hui Zhang, Ming Li   +15 more
doaj   +1 more source

Case Report: Compound heterozygous variants in <i>LSS</i> and <i>TSPEAR</i> genes causing hypotrichosis type 14 complicated with ectodermal dysplasia type 14. [PDF]

Front Med (Lausanne)
Xu Y, Yang D, Xie Y, Liu Q, Lv S, Du M, Wang L.   +6 more
europepmc   +1 more source