Anais Brasileiros de Dermatologia, 2004 Descreve-se uma família com síndrome dos cabelos anágenos frouxos (SCAF) associada à distrofia macular. Foram descritos os achados dermatológicos, oftalmológicos e de microscopia óptica e eletrônica de varredura de 11 indivíduos.
Mário Teruo Sato +8 more
doaj +1 more source
Clinical Classification of Mosaicism
JEADV Clinical Practice, Volume 4, Issue 3, Page 646-651, August 2025.Mosaic skin abnormalities can present under a segmental pattern or as ¡non‐segmental skin lesions. Non‐segmental mosaicism (Figure 1, a‐c), which is most common, includes individual point lesions, tumors, hamartomatous lesions, or malformations. Segmental mosaicism (Figure 2, a‐f)is less common and presents as asymmetric cutaneous lesions in one or ...
Andrea Diociaiuti +3 more
wiley +1 more source
A novel pathogenic CDH3 variant underlying heredity hypotrichosis simplex detected by whole-exome sequencing (WES)—a case report [PDF]
, 2022 Ayat Kadhi +4 more
openalex +1 more source
JDDG: Journal der Deutschen Dermatologischen Gesellschaft, EarlyView.
Edwin Cuperus +7 more
wiley +1 more source
HAI-2 stabilizes, inhibits, and regulates SEA-cleavage-dependent secretory transport of matriptase [PDF]
, 2017 It has recently been shown that HAI-2 is able to suppress carcinogenesis induced by overexpression of matriptase, as well as cause regression of individual established tumors in a mouse model system. However, the role of HAI-2 is poorly understood.
Barre +56 more
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Česká Stomatologie a Praktické Zubní Lékařství, 2013 Background: Ectodermal dysplasia is a rare, genetically determined disease, which is characterized by alterations in two or more ectodermal structures, at least one of these involving alterations in hair, teeth, nails, or sweat glands.
L. Kramerová, E. Kaplová
doaj +1 more source
Symptomatic narcolepsy in a dog with functional pituitary gland macroadenoma
Veterinary Record Case Reports, Volume 13, Issue 2, June 2025.Abstract Symptomatic narcolepsy in dogs has been rarely reported. A 7‐year‐old, female, neutered Greek harehound presented with chronic progressive lethargy, dysphonia, episodes of flaccid paralysis of all limbs following excitement or eating, as well as pinnae and tail alopecia, hyperpigmentation and ‘rat tail’.
Christina Koufaki +4 more
wiley +1 more source
Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations [PDF]
, 2015 BACKGROUND: Hereditary Fibrosing Poikiloderma (HFP) with tendon contractures, myopathy and pulmonary fibrosis (POIKTMP [MIM 615704]) is a very recently described entity of syndromic inherited poikiloderma.
Alan D. Irvine +72 more
core +5 more sources
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 +6 more
doaj +1 more source
A Human-Derived Monoclonal Antibody Targeting Extracellular Connexin Domain Selectively Modulates Hemichannel Function [PDF]
, 2019 Connexin hemichannels, which are plasma membrane hexameric channels (connexons) composed of connexin protein protomers, have been implicated in a host of physiological processes and pathological conditions. A number of single point pathological mutations
Buratto, Damiano +12 more
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