Results 111 to 120 of about 695 (177)

<i>Adar</i>-associated Aicardi Goutières syndrome in a child with bilateral striatal necrosis and recurrent episodes of transaminitis. [PDF]

BMJ Case Rep, 2023
van Toorn R, van Niekerk M, Moosa S, Goussard P, Solomons R.   +4 more
europepmc   +1 more source

Analysis of genotype/phenotype correlations in Japanese patients with dyschromatosis symmetrica hereditaria

Dyschromatosis symmetrica hereditaria (DSH) is one of the genetic pigmentation disorders and shows characteristic mixture of hyper- and hypo-pigmented small macules on the extremities. Heterozygous mutations in the adenosine deaminase acting on RNA1 gene
Kobayashi, Tomoko, Kono, Michihiro, Tsutsui, Kiyohiro, Takeichi, Takuya, Takai, Ayaka, Suganuma, Mutsumi, Akita, Hirotaka, Inasaka, Yu, Muro, Yoshinao, Akiyama, Masashi   +9 more
core  

Multimodal Imaging Features in a Fatal Case of Incontinentia Pigmenti with Severe Neurological Involvement: A Case Report and Literature Review. [PDF]

Curr Med Imaging
Zhang S, Jiang L, Wan M, Zhang B, Guo Y, Chen C, Wang R, Lao Q, Yang W.   +8 more
europepmc   +1 more source

A rare case of late-onset amyloidosis cutis dyschromica. [PDF]

JAAD Case Rep
Lau M, Moshiri A, Khalil S, Siegel L.
europepmc   +1 more source

Familial Gigantic Melanocytosis: A Report of Rare Case.

Indian J Dermatol, 2023
Nair VU, Patil M, Basavaraju J, Kudligi C, Choukimath SM.   +4 more
europepmc   +1 more source

Familial Amyloidosis Cutis Dyschromica with GPNMB mutation: A Case Report and Literature Review. [PDF]

Acta Derm Venereol
Untaaveesup S, Borriboon T, Supsrisunjai C.   +2 more
europepmc   +1 more source

Hyperkeratotic lesions on palms and soles. [PDF]

JAAD Case Rep
Khemani UN, Fogla N, Poojary S, Sajgane AA.   +3 more
europepmc   +1 more source

Dyschromatosis Universalis Hereditaria

Annals of Dermatology, 1990
Young Suck Ro, Tchae Sik Nam, Chang Woo Lee, Chan Kum Park, Weoun Pheel Seou, Jae Hong Kim   +5 more
openaire   +1 more source

Dermatological Enigma Unveiled: A Rare Case Report on Dowling-Degos Disease. [PDF]

Int J Appl Basic Med Res
Goswami PR, Pathania YS, Singh G, Patel T, Agarwal A.   +4 more
europepmc   +1 more source

Extra-facial Melasma Presenting With Isolated Forearm Involvement in a Male Patient. [PDF]

Cureus
Allevato DM, Davis T, Hamann D.
europepmc   +1 more source