Results 81 to 90 of about 6,674 (213)

Ectodermal Dysplasia: Report and Analysis of Eleven South Indian Patients with Review of Literature

Journal of Indian Academy of Oral Medicine and Radiology, 2010
Ectodermal dysplasia represents a rare syndrome affecting two or more ectodermally derived structures. The condition is thought to occur in approximately 1 in every 100,000 live births.
Renuka Ammanagi, Vaishali Keluskar, Anjana Bagewadi   +2 more
doaj  

Hypohidrotic Ectodermal Dysplasia [PDF]

Journal of Clinical and Diagnostic Research, 2021
Chiranjit Ghosh, Shabnam Zahir, Shyamal Bar   +2 more
doaj   +1 more source

In silico analysis of missense mutations in LPAR6 reveals abnormal phospholipid signaling pathway leading to hypotrichosis. [PDF]

PLoS ONE, 2014
Autosomal recessive hypotrichosis is a rare genetic irreversible hair loss disorder characterized by sparse scalp hair, sparse to absent eyebrows and eyelashes, and sparse axillary and body hair.
Syed Irfan Raza, Dost Muhammad, Abid Jan, Raja Hussain Ali, Mubashir Hassan, Wasim Ahmad, Sajid Rashid   +6 more
doaj   +1 more source

Linkage and sequence analysis indicate that CCBE1 is mutated in recessively inherited generalised lymphatic dysplasia [PDF]

, 2010
Generalised lymphatic dysplasia (GLD) is characterised by extensive peripheral lymphoedema with visceral involvement. In some cases, it presents in utero with hydrops fetalis. Autosomal dominant and recessive inheritance has been reported.
Brice, G, Bunyan, DJ, Connell, F, Homfray, T, Jeffery, S, Kalidas, K, Lymphoedema Consortium, Mansour, S, Mitton, S, Mortimer, P, Ostergaard, P, Roberts, L   +11 more
core   +1 more source

Proliferative and neoplastic aural pinna masses in a collection of African giant pouched rats (Cricetomys ansorgei)

Veterinary Record Case Reports, Volume 13, Issue 3, September 2025.
Abstract This case series describes aural lesions occurring in five African giant pouched rats (Cricetomys ansorgei) residing at a single zoological institution in southern California. Age of onset ranged from 3 to 7 years. Lesions occurred as single or multiple masses on one or both ears. A single case also developed a nasal mass.
Amanda Burke, Alison Righton, Tess Rooney, Matt Marinkovich, Garrett Fraess   +4 more
wiley   +1 more source

Mutation–proved Clouston syndrome in a large Indian family with a variant phenotype

Indian Journal of Dermatology, 2019
Hereditary ectodermal dysplasias, a group of disorders affecting skin, hair, nails, and teeth, consist of two main clinical forms – hypohidrotic and hidrotic.
Sangeeta Khatter, Ratna Dua Puri, Sunita Bijarnia Mahay, Pratibha Bhai, Renu Saxena, Ishwar C Verma   +5 more
doaj   +1 more source

Hypohidrotic Ectodermal Dysplasia with total anodontia: a case report [PDF]

, 2011
Ectodermal dysplasia is a hereditary disorder that occurs as a consequence of disturbances in the ectoderm of the developing embryo. The triad of nail dystrophy, alopecia or hypotrichosis and palmoplantar hyperkeratosis is usually accompanied by a lack ...
Sathyajith Naik, N., Shashibhushan, K.K., Subba Reddy, V.V., Viswanathan, Revathy   +3 more
core   +1 more source

Fecal and Clinical Profiles of Dogs With Chronic Enteropathies Treated With Bile Acid Sequestrants for 5–47 Months: A Retrospective Case Series

Journal of Veterinary Internal Medicine, Volume 39, Issue 5, September/October 2025.
ABSTRACT Background Bile acid (BA) malabsorption and BA diarrhea (BAD) are prevalent but underdiagnosed conditions in people with chronic diarrhea of multiple causes. Recent studies have shown BA dysmetabolism in dogs with chronic enteropathies (CE). Objective Describe canine inflammatory bowel disease activity index (CIBDAI), dysbiosis index (DI) and ...
Linda Toresson, Amanda B. Blake, Chi‐Hsuan Sung, Gunilla Olmedal, Ulrika Ludvigsson, Paula R. Giaretta, M. Katherine Tolbert, Jan S. Suchodolski   +7 more
wiley   +1 more source

Targeting matriptase in breast cancer abrogates tumour progression via impairment of stromal-epithelial growth factor signalling. [PDF]

, 2015
Matriptase is an epithelia-specific membrane-anchored serine protease that has received considerable attention in recent years because of its consistent dysregulation in human epithelial tumours, including breast cancer.
Bergum, Christopher, Boerner, Julie, Colombo, Éloïc, Lang, Julie E, Leduc, Richard, List, Karin, Marsault, Eric, Molinolo, Alfredo A, Murray, Andrew S, Tanabe, Lauren M, Varela, Fausto A, Zoratti, Gina L   +11 more
core   +1 more source

A novel MBTPS2 missense variant identifying keratosis follicularis spinulosa decalvans in a case of neonatal erythroderma

JDDG: Journal der Deutschen Dermatologischen Gesellschaft, Volume 24, Issue 3, Page 392-396, March 2026.
Edwin Cuperus, Michel van Geel, Virginie JM Verhoeven, Suzanne M Koudijs, Gerharda H Boerman, Angela M Tjiam, N Margreth van der Lugt, Suzanne GMA Pasmans   +7 more
wiley   +1 more source