Results 51 to 60 of about 2,525 (203)
Developmental Medicine &Child Neurology, Volume 67, Issue 11, Page 1383-1408, November 2025.Plain language summary: https://onlinelibrary.wiley.com/doi/10.1111/dmcn.16431 Abstract Antenatal destructive events affecting the central nervous system of the foetus lead to disruptive brain lesions that are often associated with impaired neurodevelopment.
Ana Alarcón +33 more
wiley +1 more source
Pigmentary Mosaicism: An Overview
JEADV Clinical Practice, Volume 4, Issue 3, Page 681-689, August 2025.Pigmentary mosaicism is reflected by a patterned hypo‐, hyperpigmentation, or both combined in cutis tricolour. Pigmentary mosaicism can be associated with extracutaneous features (mainly neurological, musculoskeletal or ophthalmological). Three main mechanisms are involved in the development of pigmentary mosaicism: mosaicism for a chromosomal ...
C. Colmant +3 more
wiley +1 more source
BMC Pediatrics, 2019 Background Incontinentia Pigmenti is a rare disease affecting multiple organs. Fifty of patients show affection of the eye with retinopathy and possible amaurosis being the worst outcome.
S. Kunzmann +6 more
doaj +1 more source
Categories of Cutaneous Mosaicism
JEADV Clinical Practice, Volume 4, Issue 3, Page 652-658, August 2025.ABSTRACT In this overview, the following 12 different categories of cutaneous mosaicism are considered: (1) Discrimination between monoallelic and biallelic mosaicism in autosomal dominant traits; (2) Segmental versus disseminated mosaicism in autosomal dominant disorders.
Rudolf Happle
wiley +1 more source
INCONTINENTIA PIGMENTI WITH OCULAR INVOLVEMENT: TWO CASES
, 2012 Incontinentia pigmenti with ocular involvement: two cases: Incontinentia pigmenti (IP) is a rare, X-linked dominant disorder that presents at or soon after birth and presents with cutaneous signs and symptoms. Besides its typical skin signs presenting in
Karadag, R. +5 more
core +1 more source
Clinical Classification of Mosaicism
JEADV Clinical Practice, Volume 4, Issue 3, Page 646-651, August 2025.Mosaic skin abnormalities can present under a segmental pattern or as ¡non‐segmental skin lesions. Non‐segmental mosaicism (Figure 1, a‐c), which is most common, includes individual point lesions, tumors, hamartomatous lesions, or malformations. Segmental mosaicism (Figure 2, a‐f)is less common and presents as asymmetric cutaneous lesions in one or ...
Andrea Diociaiuti +3 more
wiley +1 more source
Incontinentia Pigmenti: A Case Report of a Complex Systemic Disease
, 2017 Incontinentia Pigmenti is an uncommon X-linked genodermatosis, caused by mutations in the NEMO gene. It is a systemic disease that involves tissue of ectodermic and mesodermic origin, including cutaneous tissue, teeth, eyes and the central nervous system,
Uwe Wollina +7 more
core +1 more source
Pediatric Dermatology, Volume 42, Issue 3, Page 620-624, May/June 2025.ABSTRACT Congenital erosive and vesicular dermatosis (CEVD) is a rare condition that typically presents at birth with erosions and vesicles that heal with distinctive reticulate and supple scarring. We report two cases of CEVD in term infants, both of which exhibited unique features.
Lindy Moxham +2 more
wiley +1 more source
Incontinentia pigmenti: A propósito de un caso.
, 2013 Incontinentia Pigmenti is a rare X-linked multisystem neuroectodermic disorder with signs and symptoms related mainly to the dermatologic, dental, ocular and central nervous systems, and characterized by death in the majority of male embryos.
Avalos, Carmen +3 more
core +1 more source
"IP.ASS.I avanti nella ricerca…contro la pandemia" incontro con esperti di Incontinentia pigmenti [PDF]
, 2021 In occasione della Settimana Mondiale Malattie rare, l’Associazione Italiana Incontinentia pigmenti ONLUS (IPASSI) e la Biobanca Genetica per Incontinentia pigmenti del Cnr(IPGB) organizzano un incontro online dedicato ai pazienti con la malattia rara ...
Ursini, Matilde Valeria +2 more
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