Results 91 to 100 of about 1,259,329 (163)

A Case of Mucopolysaccharidosis II Caused by a Novel Variant with Skin Linear Hyperpigmented Streaks along Blaschko's Lines. [PDF]

Int J Mol Sci, 2023
Sofronova V, Gurinova E, Petukhova D, Fukamatsu H, Yamamoto T, Aoyama Y, Golikova P, Moskvitin G, Ivanova R, Savvina M, Vasilev F, Moriwaki T, Terawaki S, Sukhomyasova A, Maksimova N, Otomo T.   +15 more
europepmc   +1 more source

Persistent hyperplastic primary vitreous in a child with incontinentia pigmenti and infantile spasms.

Oman J Ophthalmol, 2022
Madan S, Chaudhuri Z.
europepmc   +1 more source

[The Bloch-Sulzberger syndrome].

Vestnik dermatologii i venerologii, 1987
G Iu, Kurnikov, I V, Pukhova
openaire   +1 more source

Dermoscopy in the Diagnostics of Incontinentia Pigmenti Skin Lesions. [PDF]

Dermatol Pract Concept, 2022
Minic S, Dobrosavljevic D, Lalosevic J, Trpinac D.   +3 more
europepmc   +1 more source

Incontinentia Pigmenti: A Rare Case of Survival of a Male Infant. [PDF]

Cureus
Shin R, Chen H, Tarbox M.
europepmc   +1 more source

Age-Adapted Diagnostic Evaluation and Treatment of Patients With Type 1 Neurofibromatosis in Germany. [PDF]

Dtsch Arztebl Int
Farschtschi S, Vaassen P, Kluwe L, Hartung T, Salamon J, Rosenbaum T.   +5 more
europepmc   +1 more source

Fundus changes in incontinentia pigmenti (Bloch-Sulzberger syndrome): a case report. [PDF]

Br J Ophthalmol, 1978
Jain RB, Willetts GS.
europepmc   +1 more source

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

[Bloch-Sulzberger syndrome].

Vestnik dermatologii i venerologii, 1988
S S, Piliugina, V V, Purysheva, V I, Kiurdoglo, A P, Avksent'ev   +3 more
openaire   +1 more source

Bloch-Sulzberger syndrome: a case report

Introduction: Pigmentary retention disease, also known as BlochSulzberger syndrome, is a rare genetic disorder inherited dominantly through the X chromosome. This condition is marked by distinct skin alterations, and can affect various organ systems. Typically, the diagnosis is more prevalent in females, as the disease tends to be fatal in males.
openaire   +1 more source