Results 51 to 60 of about 695 (177)
Amyloidosis cutis dyschromica: A rare dyschromic pigmentary disorder
Indian Journal of Dermatopathology and Diagnostic Dermatology, 2019 Primary cutaneous amyloidosis (PCA) is the deposition of amyloid proteins in the skin without systemic involvement. Amyloidosis cutis dyschromica (ACD) is a rare variant of PCA with onset typically in early childhood or at a prepubertal age.
Kuldeep Verma +3 more
doaj +1 more source
A Case Report of Dyschromatosis Universalis Hereditaria (DUH) with Primary Ovarian Failure (POF) [PDF]
Journal of Clinical and Diagnostic Research, 2016 Dyschromatosis Universalis Hereditaria (DUH) belongs to a group of congenital diffuse reticulate pigmentary disorders characterised by both hypo and hyper pigmented macules. It is both hereditary and sporadic.
N.S Jayanthi +4 more
doaj +1 more source
Reticulate acropigmentation of dohi: Dermatoscopic features in two cases
Clinical Dermatology Review, 2022 Reticulate acropigmentation of Dohi is a rare genodermatosis inherited as an autosomal dominant trait. It is a localized form of dyschromatosis universalis hereditarian, characterized by the presence of hyperpigmented and hypopigmented macules with ...
Jinal Jainendra +3 more
doaj +1 more source
, 2021 [[abstract]]Psoriasis is a common and important inflammatory dermatosis with more than 80 susceptibility genes identified but rarely associated with pigmentary genodermatosis.
Weng, HY;Wu, RW;Chen, YT;Lin, YF;Liu, YM;Tsai, SF;Chang, CH
core +1 more source
Dermatopathia pigmentosa reticularis: through the eye of dermoscope
Pigment International, 2023 Dermatopathia pigmentosa reticularis is a rare ectodermal dysplasia characterized by a triad of generalized reticulate hyperpigmentation, noncicatricial alopecia, and onychodystrophy. We report a case of a 22-year-old male with characteristic features of
Aditi Bansal +3 more
doaj +1 more source
American Journal of Medical Genetics Part A, Volume 197, Issue 9, September 2025.ABSTRACT Genitopatellar syndrome (GPS) and Say‐Barber‐Biesecker‐Young‐Simpson Syndrome (SBBYSS) are clinically distinct neurodevelopmental disorders caused by monoallelic pathogenic variants in KAT6B. In some cases, GPS and SBBYSS features can overlap, determining an intermediate phenotype.
Vittorio Maglione +12 more
wiley +1 more source
Dermatologic Therapy, Volume 2025, Issue 1, 2025.Background Partial unilateral lentiginosis (PUL) is a rare acquired hyperpigmented disorder presenting as clusters of small, brown macules on otherwise normal skin, limited to one side of the body, and typically emerging in childhood. Only a few cases of successful treatment have been documented, and a consistently effective therapy for achieving ...
Hoon Hur +10 more
wiley +1 more source
Advances in the characterization of RNA‐binding proteins
WIREs RNA, Volume 7, Issue 6, Page 793-810, November/December 2016., 2016 Protein and RNA molecules interact in vivo to accomplish a number of essential functions (e.g., transcription, translation, etc.). Deciphering these interactions is crucial to understand the mechanisms related to cell function and dysfunction. All these fundamental questions have started to be addressed thanks to the recent development of new ...
Domenica Marchese +4 more
wiley +1 more source
Differential Diagnosis of Two Chinese Families with Dyschromatoses by Targeted Gene Sequencing
Chinese Medical Journal, 2016 Background: The dyschromatoses are a group of disorders characterized by simultaneous hyperpigmented macules together with hypopigmented macules. Dyschromatosis universalis hereditaria (DUH) and dyschromatosis symmetrica hereditaria are two major types ...
Jia-Wei Liu +6 more
doaj +1 more source
Frontiers in Genetics, 2020 Dyschromatosis universalis hereditaria (DUH) is a rare genodermatosis characterized by mottled hyperpigmented and hypopigmented macules. SASH1 and ABCB6 have been identified as the causative genes for this disorder. We performed whole exome sequencing on
Nan Wu +27 more
doaj +1 more source