Results 51 to 60 of about 1,818 (165)
Extensive Erosions and Ulcerations in a Newborn
Pediatric Dermatology, Volume 42, Issue 6, Page 1283-1285, November/December 2025.
Isabel Yoon +4 more
wiley +1 more source
Narrowing the Differential: A Unique Case of Dystrophic Epidermolysis Bullosa
Case Reports in Pediatrics, Volume 2025, Issue 1, 2025.Dystrophic epidermolysis bullosa (DEB) is a rare inherited skin disorder characterized by mechanical stress‐induced blistering and skin erosion. Diagnosis is confirmed through molecular genetic testing, typically identifying mutations in the COL7A1 gene. DEB can mimic other neonatal dermatologic conditions, making early identification challenging.
Lauren Yacobucci +4 more
wiley +1 more source
Incontinentia Pigmenti Misdiagnosed as Neonatal Herpes Simplex Virus Infection
Case Reports in Pediatrics, 2018 Incontinentia pigmenti (IP) is an X-linked dominant neurocutaneous syndrome with ophthalmologic, neurologic, cutaneous, and dental manifestations and in most cases antenatally lethal in boys.
Fahimeh Abdollahimajd +5 more
doaj +1 more source
SRY+ Derivative X Chromosome in a Female With Apparently Typical Sexual Development
Molecular Genetics &Genomic Medicine, Volume 12, Issue 11, November 2024.When the SRY gene is present in a 46,XX fetus, some degree of testicular development is expected. Our laboratory detected an SRY+ derivative X chromosome resulting from a translocation between Xq28 and Yp11.2 in an apparently typical female neonate. This case demonstrates how the SRY gene may be present in a 46,XX biological female without differences ...
Casey J. Brewer +5 more
wiley +1 more source
Linear atrophoderma of Moulin: A rare case report and review of the literature
Skin Health and Disease, Volume 4, Issue 5, October 2024.Linear atrophoderma of Moulin (LAM) is an uncommon dermatological disease characterised by linear, depressed plaques on the skin. TLAM is a rare condition; we were only able to identify 23 case reports in the published literature. The findings of this report contribute to the limited literature on LAM, highlighting the importance of accurate diagnosis ...
Moatasem Hussein Al‐janabi +5 more
wiley +1 more source
Incontinentia pigmenti: A propósito de un caso.
Revista Médica Herediana, 1995 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.
Carlos Tori Tori +3 more
doaj
American Journal of Ophthalmology Case Reports, 2017 Purpose: To describe a patient with incontinentia pigmenti (IP) and Raynaud's phenomenon (RP). Observations: A 5 year-old girl with history of IP was noted to have RP.
Margaret A. Greven, Darius M. Moshfeghi
doaj +1 more source
A 7-year-old female child of incontinentia pigmenti presenting with vitreous hemorrhage
Indian Journal of Ophthalmology, 2017 Incontinentia pigmenti (IP) is a rare disease with multisystemic anomalies, which commonly presents just after birth. Here, we report a rare case of IP patient with vitreous hemorrhage in school-age children.
Sung-Ying Huang +2 more
doaj +1 more source
Periodic hypersomnia, congenital ectodermal disorders and multiple exostosis
Arquivos de Neuro-Psiquiatria, 1989 A case of periodic hypersomnia in an 11-year-old female with the unique features of mental deficiency, incontinentia pigmenti, acanthosis nigricans and hereditary multiple exostosis (diaphysial aclasis) is reported.
Rubens Reimão, Aron Diament
doaj +1 more source