Results 21 to 30 of about 2,525 (203)

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

Retinopathy in incontinentia pigmenti

Indian Journal of Ophthalmology, 2019
Pukhraj Rishi, Niharika Singh, Ekta Rishi   +2 more
doaj   +3 more sources

Hyperpigmented stage of incontinentia pigmenti

Indian Dermatology Online Journal, 2021
Rhea Ahuja, Akash P Mustari, Neetu Bhari
doaj   +2 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: A Case Report of Early Clinical Symptoms in a Lack of Family Inheritance Positive Result. [PDF]

Clin Cosmet Investig Dermatol, 2023
Fang Yuan,1,* Feng-Na Zhu,2,* Xiao-Juan Liu,1,* Jun Li,3 Hong-Tao Xu1 1Department of Pediatrics, General Hospital of Central Theater Command of the People’s Liberation Army, Wuhan, 430070, People’s Republic of China; 2Department of ...
Yuan F, Zhu FN, Liu XJ, Li J, Xu HT.
europepmc   +2 more sources

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
  +7 more sources

Incontinentia pigmenti in a newborn boy

, 2021
Incontinentia pigmenti is an uncommon X-linked dominant neurocutaneous ectodermal dysplasia. The disorder is usually lethal in males in utero, although it may occasionally occur in males with somatic mosaicsism or Klinefelter syndrome.
Bergmann, Kristin, Tareen, Ali, Gregersen, Pernille Axél, Graakjær, Jesper, Sommerlund, Mette   +4 more
core   +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

An infant with X‐linked anhidrotic ectodermal dysplasia with immunodeficiency presenting with Pneumocystis pneumonia: A case report

Clinical Case Reports, 2021
Pneumocystis jirovecii pneumonia associated with primary immunodeficiency should be considered in infants with slowly progressing cyanosis, even without fever or respiratory symptoms.
Miwako Toyohara, Yuko Kajiho, Etsushi Toyofuku, Chie Takahashi, Keiho Owada, Shoichiro Kanda, Yutaka Harita, Hidenori Ohnishi, Taizo Wada, Kohsuke Imai, Hirokazu Kanegane, Tomohiro Morio, Akira Oka   +12 more
doaj   +1 more source

Clinical profile of comorbidity of rare diseases in a Tunisian patient: a case report associating incontinentia pigmenti and Noonan syndrome

BMC Pediatrics, 2018
Background Noonan syndrome (NS) is an autosomal dominant multisystem disorder caused by the dysregulation of several genes belonging to the RAS Mitogen Activated Protein Kinase (MAPK) signaling pathway.
Nehla Ghedira, Arnaud Lagarde, Karim Ben Ameur, Sahar Elouej, Rania Sakka, Emna Kerkeni, Fatma-Zohra Chioukh, Sylviane Olschwang, Jean-Pierre Desvignes, Sonia Abdelhak, Valerie Delague, Nicolas Lévy, Kamel Monastiri, Annachiara De Sandre-Giovannoli   +13 more
doaj   +1 more source