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
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
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Hereditary Trichodysplasia: Marie Unna'S Hypotrichosis
Journal of Investigative Dermatology, 1971 This is a study of eight members of one family with Marie Unna hypotrichosis occurring in five generations. All affected individuals were born with widespread facial “milia”, sparse scalp hair and decreased body hair. Laboratory studies including urinary amino acids and plasma testosterone were normal.
Solomon, Lawrence M +2 more
openaire +2 more sources
Truncation of POC1A associated with short stature and extreme insulin resistance [PDF]
, 2015 We describe a female proband with primordial dwarfism, skeletal dysplasia, facial dysmorphism, extreme dyslipidaemic insulin resistance and fatty liver associated with a novel homozygous frameshift mutation in POC1A, predicted to affect two of the three ...
Adams, Claire +29 more
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Rare Coexistence of Monilethrix and Trichorrhexis Nodosa in a Pediatric Patient: A Case Report
Clinical Case Reports, Volume 14, Issue 2, February 2026.ABSTRACT Monilethrix is a rare genetic disorder characterized by sparse, brittle hair, primarily affecting the scalp, although it may also affect other parts of the body. Trichorrhexis nodosa (TN) is another hair shaft disorder characterized by brittle and fragile hair shafts. Concurrence of monilethrix and TN is exceedingly rare.
Yasamin Dehghan, Mozhdeh Sepaskhah
wiley +1 more source
A case of Hallermann-Streiff-Francois syndrome : an ophthalmological perspective [PDF]
, 2017 Hallermann-Streiff-François syndrome is a rare condition which offers multidisciplinary diagnostic and therapeutic challenges. The difficulty in dealing with these cases is compounded by the presentation at a very young age.
Vassallo, James
core
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.
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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
Monilethrix: a typical case report with microscopic and dermatoscopic findings [PDF]
Anais Brasileiros de Dermatologia, 2015 Monilethrix is a rare hereditary condition generally considered to be an autosomal dominant disorder with variable penetrance. A case of a 6-year-old girl without a familial background for this disease is reported.
Elisa Fontenelle de Oliveira +1 more
doaj +2 more sources
An essential role for LPA signalling in telencephalon development [PDF]
, 2014 Lysophosphatidic acid (LPA) has wide-ranging effects on many different cell types, acting through G-protein-coupled receptors such as LPAR6. We show that Xenopus lpar6 is expressed from late blastulae and is enriched in the mesoderm and dorsal ectoderm ...
Amaya +73 more
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