Results 121 to 130 of about 2,525 (203)

Familial Exudative Vitreoretinopathy Initially Diagnosed as Incontinentia Pigmenti in an Asymptomatic Teenager: A Case Report. [PDF]

Case Rep Ophthalmol, 2023
Karmouta R, Tsui I, Khitri M.
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

Challenges in Rare Diseases Diagnostics: Incontinentia Pigmenti with Heterozygous GBA Mutation. [PDF]

Diagnostics (Basel), 2022
Minić S, Trpinac D, Novaković I, Cerovac N, Dobrosavljević Vukojević D, Rosain J.   +5 more
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

Combined rhegmatogenous and tractional retinal detachment in a child with incontinentia pigmenti managed by scleral imbrication with scleral buckle. [PDF]

BMJ Case Rep, 2023
Belenje A, Jalali S.
europepmc   +1 more source

Incontinentia pigmenti and Behçet's syndrome: an unusual combination

, 1986
We describe an unusual case of a child who had had incontinentia pigmenti from birth and developed the clinical picture of Behçet's syndrome at five years of age.
R. Piccinno, S.Menni, RM Delle Piane, M. Bardare, A. Biolchini   +4 more
core  

Incontinentia Pigmenti-Dermoscopy Features of Early Evolving Disease. [PDF]

Indian Dermatol Online J
Vijaikumar M, Saravanan Y, Christin Armel JS.   +2 more
europepmc   +1 more source

NEMO Gene Mutations in Two Chinese Females with Incontinentia Pigmenti. [PDF]

Clin Cosmet Investig Dermatol, 2022
Jiang J, Zeng J, He Q, Yang J, Wang S, Zhang Z.   +5 more
europepmc   +1 more source

Skeletal

, 2014
Linear skin lesions were noticed at birth in a baby girl, first born to a young mother. The lesions consisted of vesicles, papules and verrucous plaques on all 4 limbs and lateral aspects of trunk (Figure 1). The mother, who was examined at delivery, did
Blue Sclera, M C G Karunanayake, P M G Punchihewa, Incontinentia Pigmenti, Iris Hypoplasia   +4 more
core  

Incorporating Nanopore Sequencing Into a Diverse Diagnostic Toolkit for Incontinentia Pigmenti. [PDF]

Hum Mutat
Ahting S, Popp D, Oppermann H, Strehlow V, Fasshauer M, Popp B, Karnstedt M, Schumann I.   +7 more
europepmc   +1 more source