Results 31 to 40 of about 695 (177)
Unraveling Dowling-Degos Disease: A Rare Skin Disorder. [PDF]
Clin Case RepABSTRACT Dowling–Degos disease (DDD) is a rare genodermatosis characterized by brown to black macules distributed symmetrically in the axilla, groin, elbow, face, neck, and trunk. It is more common in women, usually after puberty. The main pathogenesis behind DDD is a mutation in the keratin 5 gene.
Mathur M +5 more
europepmc +2 more sources
Generalized reticulated hyperpigmented patches interspersed with hypopigmented macules [PDF]
JAAD Case Reports, 2021 Meshal Mohammad Alhameedy, MD
doaj +2 more sources
Dermoscopy of Acquired Brachial Cutaneous Dyschromatosis (ABCD) [PDF]
Dermatology Practical & ConceptualNoemi Plozner +3 more
doaj +2 more sources
Dyschromatosis Universalis Hereditaria
Kathmandu University Medical Journal, 2021 Dyschromatosis universalis hereditaria (DUH) is a rare pigmentary genodermatosis usually inherited in autosomal dominant fashion characterized by multiple pinpoint to pea-sized hypo- and hyper-pigmented macules arranged in reticulate pattern that develops within the first few years of life.
M, Bista, S, Agrawal, Y, Agrawal
openaire +2 more sources
Acropigmentation of DohiA Rare Presentation [PDF]
Journal of Clinical and Diagnostic Research, 2021 Reticulate Acropigmentation of Dohi or Dyschromatosis symmetrica hereditaria, is an autosomal dominant genodermatosis, with very few reported autosomal recessive traits mostly seen in the Japanese population.
SAMIKSHA DEEPAK CHAVHAN +3 more
doaj +1 more source
Molecular Genetics &Genomic Medicine, Volume 9, Issue 12, December 2021., 2021 Abstract Familial Progressive Hyper‐ and Hypopigmentation is a pigmentary disorder characterized by a mix of hypo‐ and hyperpigmented lesions, café‐au‐lait spots and hypopigmented ash‐leaf macules. The disorder was previously linked to KITLG and various mutations have been reported to segregate in different families.
Mario Gorenjak +4 more
wiley +1 more source
Inherited Reticulate Pigmentary Disorders. [PDF]
Genes (Basel), 2023 Reticulate pigmentary disorders (RPDs) are a group of inherited and acquired skin conditions characterized by hyperpigmented and/or hypopigmented macules.
Lin MH +5 more
europepmc +2 more sources
Two novel SASH1 mutations in Chinese families with dyschromatosis universalis hereditaria
Journal of Clinical Laboratory Analysis, Volume 35, Issue 6, June 2021., 2021 Genetic screening revealed a heterozygous SASH1 c.1547G>A (p.Ser516Asn) mutation for patients in family 1, and SASH1 c.1547G>T (p.Ser516Ile) for family 2. Both such de novo mutations are located in a highly conserved SLY domain in SASH1, have not been previously reported in any publication, and were not detected in any control databases.
Jia‐Wei Liu +4 more
wiley +1 more source
Liver International, Volume 41, Issue 5, Page 1044-1057, May 2021., 2021 Abstract BACKGROUND & AIMS Primary sclerosing cholangitis (PSC) is a rare bile duct disease strongly associated with inflammatory bowel disease (IBD). Whole‐exome sequencing (WES) has contributed to understanding the molecular basis of very early‐onset IBD, but rare protein‐altering genetic variants have not been identified for early‐onset PSC.
Sjoukje‐Marije Haisma +19 more
wiley +1 more source