Results 101 to 110 of about 6,674 (213)

A unique case of vision loss in a patient with hypotrichosis and juvenile macular dystrophy and primary ciliary dyskinesia

American Journal of Ophthalmology Case Reports, 2019
Purpose: We describe a unique case of CDH3-related hypotrichosis with juvenile macular dystrophy (HJMD) and DNAH5-related primary ciliary dyskinesia (PCD) with progressive vision loss in a young Indian female without positive family history.
Kenneth C. Fan, Nimesh A. Patel, Nicolas A. Yannuzzi, Supalert Prakhunhungsit, Catherin I. Negron, Elisa Basora, Andrew A. Colin, Mustafa Tekin, Audina M. Berrocal   +8 more
doaj   +1 more source

Congenital Ciliary Hypotrichosis [PDF]

Ophthalmologica, 1964
R P, SARDA, H, CHARAN, P N, NAGPAUL
openaire   +2 more sources

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

Short Anagen Syndrome: a case study [PDF]

, 2012
Short anagen syndrome is a relatively recently described entity. This syndrome is an unusual condition where the ana-gen growth phase of hair follicles is shorter than normal.
Alés Fernández, Martina, Camacho Martínez, Francisco Miguel   +1 more
core   +1 more source

Congenital Hypotrichosis in a female Rottweiler [PDF]

, 1993
Ihrke, P. J., Mueller, Ralf S., Stannard, A. A.   +2 more
core   +1 more source

リンパ管新生における低分子量Gタンパク質Arf6の機能 [PDF]

, 2017
筑波大学 (University of Tsukuba ...
Lin Yueh-Chien, 林 岳謙
core   +1 more source

Transverse nasal line associated with congenital persistent milia [PDF]

, 2000
Altmeyer, Peter, Jansen, Thomas, Romiti, Ricardo   +2 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