Results 61 to 70 of about 8,285 (255)

Hallermann-Streiff syndrome - Clinical and prognostic considerations [PDF]

open access: yes, 1970
A patient with the Hallermann-Streiff syndrome showed significant findings, including demonstration of decreased thoracic compliance and a marked response of growth hormone to arginine stimulation. No metabolic or chromosomal defect could be demonstrated
Bass, J. W., Steele, R. W.
core   +1 more source

Monilethrix: A rare case diagnosed by dermoscopy

open access: yesIndian Journal of Paediatric Dermatology, 2020
Monilethrix is a rare genodermatosis characterized by hair shaft dysplasia, which is responsible for hypotrichosis. We present the case of a 2-year-old female, with involvement of the scalp, eyebrows, and eyelashes, in whom dermoscopy enabled a rapid ...
Aditya Rajendra Holani   +3 more
doaj   +1 more source

Prosthodontic management of hypohidrotic ectodermal dysplasia: a case report [PDF]

open access: yes, 2015
Introduction: Ectodermal dysplasia (ED) is a hereditary disorder associated with developmental disorders of two or more structures of ectodermal embryonic origin.
Bajraktarova, B.   +6 more
core   +3 more sources

Comparative structures and evolution of vertebrate lipase H (LIPH) genes and proteins: a relative of the phospholipase A1 gene families [PDF]

open access: yes, 2012
Lipase H (LIPH) is a membrane-bound phospholipase generating 2-acyl lysophosphatidic acid (LPA) in the body. LPA is a lipid mediator required for maintaining homeostasis of diverse biological functions and in activating cell surface receptors such as ...
Laura A. Cox, Roger S. Holmes
core   +1 more source

Multimodal imaging of Hypotrichosis with juvenile macular dystrophy: a case report

open access: yesBMC Ophthalmology, 2021
Background To report the first Italian case of hypotrichosis with juvenile macular dystrophy complicated by macular neovascularization diagnosed through multimodal imaging.
G. Carnovale-Scalzo   +9 more
semanticscholar   +1 more source

Diffuse congenital hypotrichosis simplex with associated hair shaft fragility

open access: yesAustralasian Journal of Dermatology, 2021
the same fingernail bed (Fig. 1B). Histopathological findings from a skin biopsy showed ulceration with diffuse interstitial infiltration of large cells with abundant eosinophilic cytoplasm and anaplastic nuclei. These cells were positive for Melan-A and
Anneliese Willems, Rodney D Sinclair
semanticscholar   +1 more source

Hypohydrotic ectodermal dysplasia: A rare case series

open access: yesJournal of Pediatric Critical Care, 2018
Hypohydrotic ectodermal dysplasia (HED) is characterized by classical triad of Hypotrichosis (sparseness of scalp and body hair), anhidrosis/hypohidrosis (absence or reduction of sweat glands), and hypodontia/ anodontia (congenital absence of teeth). The
Manisha Goyal   +3 more
doaj   +1 more source

X-linked anhidrotic ectodermal dysplasia (ED1) in men, mice, and cattle

open access: yesGenetics Selection Evolution, 2003
Ectodermal dysplasias are a large group of rare genetic disorders characterized by impaired development of hair, teeth, and eccrine glands in humans, mice, and cattle.
Drögemüller Cord   +2 more
doaj   +1 more source

Rescue of Angiopoietin‐2 Inhibits Proliferation of Lymphatic Malformation Endothelial Cells

open access: yesThe FASEB Journal, Volume 39, Issue 24, 31 December 2025.
Mechanistic summary of how autocrine ANG2 suppressed LMEC proliferation. Somatic activating SNVs in PIK3CA result in increased PI3K/Akt signaling, Akt‐mediated downregulation of ANG2, and LMEC hyperproliferation. Restoration of autocrine ANG2 in LMECs through overexpression suppressed LMEC proliferation in vitro and lymphangiogenesis in vivo and was ...
Ravi W. Sun   +10 more
wiley   +1 more source

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