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

Hum Mutat
Incontinentia pigmenti (IP) is a rare hereditary disorder affecting 1.2 in 100,000 live births, predominantly females. Genetic analysis of IP is complicated by a homologous pseudogene, making conventional short‐read sequencing challenging. While long‐range PCR is typically used to overcome this, skewed X‐inactivation detection can also aid in assigning
Ahting S, Popp D, Oppermann H, Strehlow V, Fasshauer M, Popp B, Karnstedt M, Schumann I.   +7 more
europepmc   +2 more sources

Hyperpigmented stage of incontinentia pigmenti

Indian Dermatology Online Journal, 2021
Rhea Ahuja, Akash P Mustari, Neetu Bhari
doaj   +2 more sources

Incontinencia pigmenti. Estudio descriptivo de la experiencia en dos centros hospitalarios

Anales de Pediatría, 2020
Resumen: Introducción: La incontinencia pigmenti es una genodermatosis poco frecuente, de herencia ligada al cromosoma X, que afecta a tejidos derivados del ectodermo. Nuestro objetivo es revisar de la forma más completa posible los casos diagnosticados
Sergio Ocaña Jaramillo, Javier del Boz, Ángel Vera Casaño   +2 more
doaj   +1 more source

Incontinentia Pigmenti

Journal of Cutaneous Medicine and Surgery
Incontinentia pigmenti (IP) is a rare X-linked dominant, multi-system genetic disorder characterized by evolving skin lesions that occurs almost exclusively in females. Additional manifestations most often involve embryologically-derived ectodermal tissues including the central nervous system (CNS), eyes, hair, teeth and nails.
Li-Wen Zhang, Juan Wu
  +8 more sources

Incontinentia pigmenti. A descriptive study of experience in two different hospitals

Anales de Pediatría (English Edition), 2020
Introduction: Incontinentia pigmenti is a rare genodermatosis of inheritance linked to the X chromosome that affects tissues derived from ectoderm. The aim of the study is to review, as completely as possible, the cases diagnosed in paediatric patients ...
Sergio Ocaña Jaramillo, Javier del Boz, Ángel Vera Casaño   +2 more
doaj   +1 more source

Incontinentia pigmenti in a child with suspected retinoblastoma

International Journal of Retina and Vitreous, 2017
Background Incontinentia pigmenti is a rare X-linked dominant syndrome caused by mutation in the NEMO/IKKgamma gene, and characterized by a spectrum of cutaneous, ocular, neurologic and dental abnormalities.
Stephanie J. Weiss, Archana Srinivasan, Michael A. Klufas, Carol L. Shields   +3 more
doaj   +1 more source

A rare case of neurocutaneous disorders of the newborn: Incontinentia pigmenti

Indian Journal of Paediatric Dermatology, 2018
Incontinentia Pigmenti (IP) is a rare X-linked dominant disorder which is mostly lethal for males. It effects hair, teeth, nails, eyes and central nervous system along with skin.
Melek Aslan Kayiran, Mehmet Salih Gürel, Burçe Can Kuru, Ilkin Zindancı   +3 more
doaj   +1 more source

Manifestações clínicas e desafios diagnósticos na Síndrome de incontinentia pigmenti

Revista Brasileira de Oftalmologia, 2010
A Síndrome de Incontinentia Pigmenti (Síndrome de Bloch-Sulzberger) é uma doença rara, ligada ao cromossomo X e envolve tecidos ectodérmicos de múltiplos órgãos. As manifestações oculares surgem ao nascimento ou após algumas semanas.
Paula Kataguiri, Felipe Cortizas Ré Martins, Vivien Yamada, Gustavo Salomão, Rodrigo Ribeiro, José Ricardo Carvalho Lima Rehder   +5 more
doaj   +1 more source

NEMO Gene Mutations in Chinese Patients With Incontinentia Pigmenti

Journal of the Formosan Medical Association, 2010
Incontinentia pigmenti is a rare, X-linked, dominant genodermatosis affecting skin, teeth, eyes, and central nervous system. Symptoms are associated with mutations in the nuclear factor-kappa B essential modulator (NEMO) gene on chromosome Xq28.
Pa-Fan Hsiao, Shuan-Pei Lin, Shu-Shien Chiang, Yu-Hung Wu, Hsiu-Chin Chen, Yang-Chih Lin   +5 more
doaj   +1 more source

Incontinentia Pigmenti Associated with Aplasia Cutis Congenita in a Newborn Male with Klinefelter Syndrome: Is the Severity of Neurological Involvement Linked to Skin Manifestations?

Dermatology and Therapy, 2019
We report a rare case of a newborn male affected by incontinentia pigmenti, Klinefelter syndrome, and aplasia cutis congenita, who developed severe cutaneous, neurological, and ophthalmological manifestations.
Ruggero Moro, Antonella Fabiano, Piergiacomo Calzavara-Pinton, Jacopo Cardinale, Giovanni Palumbo, Silvia Giliani, Gaetana Lanzi, Francesca Antonelli, Micaela De Simone, Paola Martelli, Elisa Fazzi, Lorenzo Pinelli, Giulio Gualdi   +12 more
doaj   +1 more source