Results 61 to 70 of about 2,841 (212)

Keratoconus in hypohidrotic ectodermal dysplasia

The Pan-American Journal of Ophthalmology, 2019
The hypohidrotic ectodermal dysplasia (HED) is a rare genetic disease characterized by the absence or deficiency function of the ectodermal derivatives.
Carolina Peres Batalha, Marcelo Vicente Andrade Sobrinho, Gabriela Chaves Hoehr, Letícia Tavares Selegatto, Rafaela Bacco Amade   +4 more
doaj   +1 more source

Hypohidrotic ectodermal dysplasia: A rare entity

Journal of Oral and Maxillofacial Pathology, 2023
Hypohidrotic ectodermal dysplasia (HED) is a genetic disorder which involves a complex group of inherited conditions. This condition is characterised by the failed development of two or more ectodermal derived anatomic structure; for example, the skin, hair, nails, teeth, and sweat glands.
Srivastava, Himanshu, Singh, Chintu K., Qureshi, Sameera M. R., Mastud, Chaitra S   +3 more
openaire   +2 more sources

Tumor Necrosis Factors and Chemokines in Hair Development [PDF]

, 2012
Several embryonic organs, such as the hair follicle, develop as appendages of the ectoderm, the outermost layer of the embryo. These organs develop as a result of reciprocal tissue interactions between the surface epithelium and the underlying mesenchyme.
Lefebvre, Sylvie
core  

Categories of Cutaneous Mosaicism

JEADV Clinical Practice, Volume 4, Issue 3, Page 652-658, August 2025.
ABSTRACT In this overview, the following 12 different categories of cutaneous mosaicism are considered: (1) Discrimination between monoallelic and biallelic mosaicism in autosomal dominant traits; (2) Segmental versus disseminated mosaicism in autosomal dominant disorders.
Rudolf Happle
wiley   +1 more source

A de Novo EDA-Variant in a Litter of Shorthaired Standard Dachshunds with X-Linked Hypohidrotic Ectodermal Dysplasia

G3: Genes, Genomes, Genetics, 2019
In this study, we present a detailed phenotype description and genetic elucidation of the first case of X-linked hypohidrotic ectodermal dysplasia in the shorthaired standard Dachshund. This condition is characterized by partial congenital hypotrichosis,
Danae Vasiliadis, Marion Hewicker-Trautwein, Daniela Klotz, Michael Fehr, Stefka Ruseva, Jennifer Arndt, Julia Metzger, Ottmar Distl   +7 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, Teresa Oranges, Eulalia Baselga, May El Hachem   +3 more
wiley   +1 more source

Hypoxia‐Driven Neurovascular Impairment Underlies Structural‐Functional Dissociation in Diabetic Sudomotor Dysfunction

MedComm, Volume 6, Issue 5, May 2025.
The progressive functional impairment of sweat glands in diabetic sudomotor dysfunction often precedes structural changes. The underlying pathogenesis of the dysfunctional but structurally normal phase of sweat gland dysfunction can be attributed to three main factors: cellular hypoxia, insufficient vascularization, and a reduction in the number of ...
Xu Guo, Chao Zhang, Yuzhen Wang, Zhao Li, Yaxin Tan, Dongzhen Zhu, Wei Song, Yi Kong, Jinpeng Du, Yuyan Huang, Liting Liang, Jianjun Li, Mengde Zhang, Linhao Hou, Qinhua Liu, Feng Tian, Bingyang Yu, Yue Kong, Zhenyu Zhou, Xiaobing Fu, Sha Huang   +20 more
wiley   +1 more source

Expanded carrier screening: A current perspective [PDF]

, 2018
Prenatal carrier screening has expanded to include a large number of genes offered to all couples considering pregnancy or with an ongoing pregnancy.
Al-Kouatly, Hb, Berghella, V, Carbone, Luigi, D'Alessandro, P, De Vivo, V, Esposito, G, Giuliani, Arduino, Maruotti, Gm, Mastantuoni, Enrica, Paternoster, M, Raffone, A, Saccone, G, Zullo, F.   +12 more
core   +1 more source

Paediatric Hypotrichosis: A Clinical and Algorithmic Approach to Diagnosis

Australasian Journal of Dermatology, Volume 66, Issue 3, Page e109-e119, May 2025.
ABSTRACT Paediatric hypotrichosis is the clinical feature of paucity of hair arising congenitally or in early life with the presentation being that of the child whose hair is growing insufficiently. It is a hallmark finding of a diverse group of genodermatoses and sporadic disorders, presenting as either an isolated symptom or in association with ...
Neda So, Leona Yip, David Orchard
wiley   +1 more source

Primary oral manifestation of Langerhans cell histiocytosis refractory to conventional therapy but susceptible to BRAF-specific treatment: a case report and review of the literature [PDF]

, 2019
Langerhans cell histiocytosis (LCH) is a diagnostic and therapeutic challenge. We report on a rare case of its primary oral manifestation that was treated successfully with the BRAF-specific agent, vemurafenib, after insufficient standard LCH treatment ...
Beck-Broichsitter, Benedicta, Doueiri, Mohemed-Salim, Heiland, Max, Lissat, Andrej, Neckel, Norbert, Raguse, Jan-Dirk, Spors, Birgit, Stackelberg, Arendt von, Thieme, Nadine   +8 more
core   +1 more source