Results 81 to 90 of about 4,533 (250)
Naegeli-Franceschetti-Jadassohn syndrome: A rare case
Indian Dermatology Online Journal, 2015 Naegeli-Franceschetti-Jadassohn Syndrome (NFJS) is a rare, autosomal dominant inherited form of ectodermal dysplasia, caused by mutation in the KRT14 gene.
Bela J Shah +3 more
doaj +1 more source
Functional analysis of Ectodysplasin-A mutations causing selective tooth agenesis. [PDF]
, 2009 Mutations of the Ectodysplasin-A (EDA) gene are generally associated with the syndrome hypohidrotic ectodermal dysplasia (MIM 305100), but they can also manifest as selective, non-syndromic tooth agenesis (MIM300606).
A Monreal +40 more
core +3 more sources
Pediatric Dermatology, Volume 42, Issue 6, Page 1265-1269, November/December 2025.ABSTRACT Marie Unna hereditary hypotrichosis 1 (MUHH1) is a rare autosomal dominant condition characterized by the absence or scarcity of hair at birth with the growth of coarse, wiry, and unruly hair during childhood and progressive hair loss after puberty.
Sarah Østergaard Holm +5 more
wiley +1 more source
A 15-year perspective of the fabry outcome survey [PDF]
, 2016 The Fabry Outcome Survey (FOS) is an international long-term observational registry sponsored by Shire for patients diagnosed with Fabry disease who are receiving or are candidates for therapy with agalsidase alfa (agala).
Beck, M +9 more
core +2 more sources
Christ–Siemens–Touraine syndrome with palmoplantar keratoderma: A rare association
Indian Dermatology Online Journal, 2016 Christ–Siemens–Touraine syndrome is a form of anhidrotic ectodermal dysplasia (ED) characterized by triad of hypodontia, hypotrichosis, and hypohidrosis. Palmoplantar keratoderma is a characteristic feature of hidrotic forms of ED.
Sunil K Kothiwala +2 more
doaj +1 more source
Fabry Disease Associated With Myelodysplastic Syndrome: Case Report
Clinical Case Reports, Volume 13, Issue 10, October 2025.ABSTRACT This is the first reported case of Fabry disease (FD) coexisting with myelodysplastic syndrome (MDS). While the coexistence of FD and MDS may be incidental, the case underscores the importance of considering FD in patients with unexplained systemic and hematological abnormalities, particularly those with a family history.
Liping Zheng +5 more
wiley +1 more source
Female Fabry disease patients and X-chromosome inactivation [PDF]
, 2018 Fabry disease is an X-linked inherited lysosomal storage disorder caused by mutations in the gene encoding α- galactosidase A (GLA). Once it was thought to affect only hemizygous males.
Gabig-Cimińska, Magdalena +7 more
core +1 more source
Biology of the Cell, Volume 117, Issue 10, October 2025.The morphodynamical plasticity of the endolysosomal system supports the formation and function of specialized intracellular compartments, as exemplified by the pigment organelles in skin cells. In epidermal melanocytes and keratinocytes, membrane trafficking and remodeling coordinate tissue pigmentation and protect the genome from photodamage ...
Laura Salavessa +4 more
wiley +1 more source
Clinical Case Reports, Volume 13, Issue 9, September 2025.ABSTRACT Fabry disease (FD) is a rare disease that progressively causes myocardial degeneration. There are only a few low‐voltage areas, but some fractionated potentials are present in the left atrium of FD patients with atrial fibrillation (AF). Attempting non‐pulmonary vein (non‐PV) substrate ablation may be worthwhile.
Koumei Onuki +5 more
wiley +1 more source
Angiokeratoma of tongue:a series of 14 cases [PDF]
, 2006 Angiokeratomas (AC) are vascular lesions which are defined histologically as one or more dilated blood vessels lying directly subepidermal and showing an epidermal proliferative reaction with ectatic capillaries in the papillary dermis.
Ahmed, Rashid +7 more
core +1 more source