Hallermann-Streiff syndrome - Clinical and prognostic considerations [PDF]
, 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
Ectodermal dysplasia: Report of two cases in a family and literature review
Journal of Family Medicine and Primary Care, 2019 Ectodermal dysplasia (ED) is a inherited genetic disorder with manifestations of abnormalities in more than one ectodermal derivatives like skin, hair, nails, exocrine glands and teeth.
Vani Chappidi +3 more
doaj +1 more source
Monilethrix: A rare case diagnosed by dermoscopy
Indian 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
Gene-Targeted Next Generation Sequencing Identifies PNPLA1 Mutations in Patients with a Phenotypic Spectrum of Autosomal Recessive Congenital Ichthyosis: The Impact of Consanguinity [PDF]
, 2017 Heritable forms of ichthyoses, also referred to as generalized Mendelian disorders of cornification, are phenotypically a highly heterogeneous group of conditions caused by mutations in a number of genes playing a role in keratinocyte differentiation ...
Abiri, Maryam +12 more
core +1 more source
Isotretinoin-induced hair growth in a case of hereditary hypotrichosis simplex of the scalp: A promising therapeutic approach [PDF]
JAAD Case ReportsAlmuntsrbellah AlMudimeegh, MD +1 more
doaj +2 more sources
Hypohydrotic ectodermal dysplasia: A rare case series
Journal 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
Comparative structures and evolution of vertebrate lipase H (LIPH) genes and proteins: a relative of the phospholipase A1 gene families [PDF]
, 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
X-linked anhidrotic ectodermal dysplasia (ED1) in men, mice, and cattle
Genetics 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
Metabolic and pathologic profiles of human LSS deficiency recapitulated in mice.
PLoS Genetics, 2020 Skin lesions, cataracts, and congenital anomalies have been frequently associated with inherited deficiencies in enzymes that synthesize cholesterol. Lanosterol synthase (LSS) converts (S)-2,3-epoxysqualene to lanosterol in the cholesterol biosynthesis ...
Yoichi Wada +18 more
doaj +1 more source
Rescue of Angiopoietin‐2 Inhibits Proliferation of Lymphatic Malformation Endothelial Cells
The 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