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Actas Dermosifiliogr 2022 Jun 27;113(6):T624-T626. Epub 2022 Apr 27.

Servicio de Dermatología, Hospital Universitario Son Espases, Palma de Mallorca, Spain.

Indian J Pediatr 2022 Jun 22. Epub 2022 Jun 22.

Child Development Clinic, Sir Ganga Ram Hospital, New Delhi, 110060, India.

Hypomelanosis of Ito is a rare neurocutaneous syndrome characterized by presence of hypopigmented skin lesions arranged in whorls and streaks following the lines of Blaschko and are often accompanied by abnormalities of the central nervous system, skeletal system, eyes and teeth. Additional symptoms include deafness, hemihypertrophy, cardiac abnormalities, renal malformations, and abnormalities of the genitourinary tract. Read More

Ophthalmol Retina 2022 Jun 9. Epub 2022 Jun 9.

John A. Moran Eye Center, University of Utah, Salt Lake City, UT, USA.

Purpose: To evaluate the prevalence of retinal disease on fluorescein angiography (FA) in patients with incontinentia pigmenti (IP) and to compare the severity of retinal disease in those with and without known central nervous system (CNS) disease.

Design: Multi-institutional consecutive retrospective case series SUBJECTS: New patients with a diagnosis of IP seen at the Casey Eye Institute, Oregon Health and Science University, Moran Eye Center, University of Utah, Wills Eye Hospital, or Bascom Palmer Eye Institute, University of Miami from December 2011 to September 2018.

Methods: Detailed ophthalmoscopic examination and FA were recommended to all new patients and performed on every patient who had parental consent. Read More

World J Clin Cases 2022 May;10(13):4171-4176

Department of Ophthalmology, The First Affiliated Hospital of Guangxi Medical University, Nanning 530021, Guangxi Province, China.

Background: Incontinentia pigmenti (IP) is a rare X-linked genetic disease. It mainly manifests as skin lesions and causes problems in the eyes, teeth, bones, and central nervous system. Of the various ocular manifestations, the most severe with difficult recovery is retinal detachment (RD). Read More

Clin Cosmet Investig Dermatol 2022 5;15:815-821. Epub 2022 May 5.

Department of Dermatology, Affiliated Hospital of North Sichuan Medical College, Nanchong, Sichuan Province, People's Republic of China.

Purpose: To identify the mutations of the NEMO gene in two Chinese females with incontinentia pigmenti.

Patients And Methods: Patients were both from Nanchong, Sichuan Province. Genomic DNA was extracted from the peripheral blood of patients and patient 1's father. Read More

Clin Cosmet Investig Dermatol 2022 29;15:803-808. Epub 2022 Apr 29.

Department of Dermatology and Venereology, Faculty of Medicine, Universitas Padjadjaran-Dr.Hasan Sadikin Hospital, Bandung, Indonesia.

Incontinentia pigmenti (IP) is a rare genodermatosis, inherited in an X-linked dominant pattern, making it generally found among women. Among several characteristics of IP are four phases of skin manifestation that tend to follow Blaschko's lines, in addition to abnormalities of the eye, central nervous system (CNS), and teeth. Ocular involvement in IP patients can occur since birth, which can be classified into retinal or non-retinal disorders. Read More

Actas Dermosifiliogr 2022 Jun 24;113(6):624-626. Epub 2022 Feb 24.

Servicio de Dermatología, Hospital Universitario Son Espases, Palma de Mallorca, España.

Australas J Dermatol 2022 05 19;63(2):258-261. Epub 2022 Apr 19.

Institute of Dermatology, Bangkok, Thailand.

Asia Pac J Ophthalmol (Phila) 2022 Mar 25. Epub 2022 Mar 25.

Department of Ophthalmology, Xin Hua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China School of Life Science, Jilin University, Changchun, Jilin, China.

Acta Dermatovenerol Alp Pannonica Adriat 2022 Mar;31(1):39-41

Department of Dermatology and Venereology, Faculty of Medicine, Hasanuddin University, Makassar, South Sulawesi, Indonesia.

Incontinentia pigmenti is a rare genodermatosis that almost exclusively affects females. The disease is caused by a mutation of the nuclear factor-κB essential modulator (NEMO) gene in the Xq-28 locus of the X chromosome. The disease can seriously affect various organs, most notably the central nervous system and eyes. Read More

J Pediatr 2022 Jun 18;245:240-242. Epub 2022 Mar 18.

Department of Dermatology, University of Arkansas for Medical Sciences, Little Rock, Arkansas.

Clin Exp Dermatol 2022 Mar 10. Epub 2022 Mar 10.

Department of Dermatology, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan.

It is extremely rare for males with incontinentia pigmenti to survive. We summarize a diagnostic evaluation protocol for such individuals to provide an explanation for male survival. Read More

Neonatal Netw 2022 Mar;41(2):89-93

Incontinentia pigmenti (IP) is a rare X-linked neuroectodermal dysplasia affecting the skin, hair, teeth, nails, microvasculature, and central nervous system. Mutations in the gene cause this disorder. Incontinentia pigmenti is found in 65-75 percent sporadic mutations and 25-35 percent familial cases. Read More

Int J Mol Sci 2022 Jan 21;23(3). Epub 2022 Jan 21.

Institute of Genetics and Biophysics "Adriano Buzzati-Traverso", IGB-CNR, Via P. Castellino, 111, 80131 Naples, Italy.

De novo somatic mutations are well documented in diseases such as neoplasia but are rarely reported in rare diseases. Hovewer, severe genetic diseases that are not compatible with embryonic development are caused exclusively by deleterious mutations that could only be found as mosaic and not as inherited mutations. We will review here the paradigmatic case of Incontinentia Pigmenti, a rare X-linked dominant disease caused by deficiency of the NEMO (also called IKKgamma) protein, which plays a pivotal role in tissue homeostasis. Read More

J Dtsch Dermatol Ges 2022 Jan;20(1):35-44

Klinik für Dermatologie und Venerologie, Universitätsklinikum Freiburg, Deutschland.

Hintergrund: Incontinentia pigmenti ist eine seltene X-chromosomal dominant vererbte Systemerkrankung, die vor allem die Haut, aber auch andere neuroektodermale Gewebe wie Zähne, Haare, Augen und das zentrale Nervensystem betrifft.

Patienten Und Methodik: Diese multizentrische Fallserienstudie wurde an drei europäischen Hautkliniken durchgeführt und umfasste 30 Patienten mit Incontinentia pigmenti. Zwanzig Patienten wurden klinisch und genetisch untersucht, weitere zehn nur genetisch. Read More

Int J Womens Dermatol 2021 Dec 27;7(5Part A):539-544. Epub 2021 Oct 27.

Department of Dermatology, Yale University School of Medicine, New Haven, Connecticut.

Genetic mosaicism results from postzygotic mutations during embryogenesis. Cells harboring pathogenic mutations distribute throughout the developing embryo and can cause clinical disease in the tissues they populate. Cutaneous mosaicism is readily visualized since affected tissue often follows predetermined patterns, such as lines of Blaschko. Read More

Front Immunol 2021 22;12:786164. Epub 2021 Dec 22.

Department of Pediatrics, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan.

Family history is one key in diagnosing inborn errors of immunity (IEI); however, disease status is difficult to determine in deceased relatives. X-linked anhidrotic ectodermal dysplasia with immunodeficiency is one of the hyper IgM syndromes that is caused by a hypomorphic variant in the nuclear factor kappa beta essential modulator. We identified a novel variant in a 7-month-old boy with pneumococcal rib osteomyelitis and later found that his mother has incontinentia pigmenti. Read More

Ophthalmol Retina 2022 04 7;6(4):330-332. Epub 2022 Jan 7.

Department of Ophthalmology, Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, Miami, Florida. Electronic address:

Front Med (Lausanne) 2021 21;8:761398. Epub 2021 Dec 21.

Department of Ophthalmology, West China Hospital of Sichuan University, Chengdu, China.

Incontinentia pigmenti (IP) is a rare X-linked neuroectodermal dysplasia affecting multiple organs. One of its most significant ophthalmic manifestations is retinal neovascularization due to retinal ischemia, which has been traditionally treated with laser photocoagulation or cryotherapy. The application of anti-vascular endothelial growth factor (VEGF) has been reported for the treatment of retinopathy of IP with beneficial results. Read More

Pediatr Dermatol 2022 Jan 5;39(1):84-90. Epub 2022 Jan 5.

Department of Dermatology, University of California San Francisco, San Francisco, California, USA.

Objectives: To characterize the skin and mucosal findings of NEMO syndrome.

Methods: Retrospective review of clinical characteristics from a cohort of two families with mutations in IKBKG (the NEMO-encoding gene). A literature review identified 86 studies describing 192 patients with IKBKG mutations whose data were also included. Read More

J Dtsch Dermatol Ges 2022 Jan 13;20(1):35-43. Epub 2021 Dec 13.

Department of Dermatology, Medical Center-University of Freiburg, Germany.

Background And Objectives: Incontinentia pigmenti is a rare X-linked dominantly inherited systemic disease affecting primarily the skin but also other neuroectodermal tissues such as teeth, hair, eyes, and the central nervous system.

Patients And Methods: This multicenter case series study was conducted at three European departments of Dermatology including 30 patients with incontinentia pigmenti. Twenty patients were evaluated clinically and genetically, another ten only genetically. Read More

SAGE Open Med Case Rep 2021 18;9:2050313X211059295. Epub 2021 Nov 18.

Centre de recherche de l'Institut universitaire de gériatrie de Montréal/Université de Montréal, Montreal, QC, Canada.

Incontinentia pigmenti is a rare genetic disease affecting the skin, microvasculature, and central nervous system, in which a hyperactive inflammatory response is observed. Due to the inflammatory phase of COVID-19 and associated cytokine storm, infection with SARS-CoV-2 in individuals with incontinentia pigmenti is a concern. Furthermore, type I interferon autoantibodies are found in life-threatening COVID-19 pneumonia and in 25% of individuals with incontinentia pigmenti. Read More

Clin Case Rep 2021 Nov 16;9(11):e05093. Epub 2021 Nov 16.

Department of Pediatrics The University of Tokyo Tokyo Japan.

pneumonia associated with primary immunodeficiency should be considered in infants with slowly progressing cyanosis, even without fever or respiratory symptoms. Genetic counseling is crucial for incontinentia pigmenti families in advance of pregnancy because lethal infections can occur before the diagnosis of X-linked anhidrotic ectodermal dysplasia with immunodeficiency. Read More

Curr Probl Diagn Radiol 2021 Aug 28. Epub 2021 Aug 28.

Mallinckrodt Institute of Radiology, Washington University School of Medicine, St. Louis, MO.

Phakomatoses, or neurocutaneous syndromes, are a heterogeneous group of rare genetic disorders that predominantly affect structures arising from the embryonic ectoderm, namely the skin, eye globe, retina, tooth enamel, and central nervous system. Other organs are also involved in some syndromes, mainly cardiovascular, pulmonary, renal, and musculoskeletal systems. Currently, more than sixty distinct entities belonging to this category have been described in the literature. Read More

Neoreviews 2021 10;22(10):e660-e672

Division of Dermatology, Children's National Hospital, Washington, DC.

Congenital pigmentary anomalies may be evident at birth or soon after, with some birthmarks becoming apparent later in infancy or early childhood. It is important to recognize various pigmentary anomalies in the neonate, most of which are benign but a subset of which are associated with cutaneous morbidity or systemic ramifications and require further evaluation. This review will focus on pigmentary mosaicism, congenital melanocytic nevi, nevus spilus, dermal melanocytosis, and pigmentary anomalies associated with neurofibromatosis type 1 (café au lait spots, freckling, plexiform neurofibromas, nevus anemicus), tuberous sclerosis (hypomelanotic macules), and incontinentia pigmenti. Read More

J Dermatol 2021 Dec 3;48(12):e577-e578. Epub 2021 Sep 3.

Division of Dermatology, Department of Internal Related, Graduate School of Medicine, Kobe University, Kobe, Japan.

Biomed Opt Express 2021 Jun 20;12(6):3553-3570. Epub 2021 May 20.

Casey Eye Institute, Oregon Health and Science University, Portland, OR 97239, USA.

Optical coherence tomography (OCT) and OCT angiography (OCTA) enable noninvasive structural and angiographic imaging of the eye. Portable handheld OCT/OCTA systems are required for imaging patients in the supine position. Examples include infants in the neonatal intensive care unit (NICU) and operating room (OR). Read More

Dermatopathology (Basel) 2021 Jun 4;8(2):159-175. Epub 2021 Jun 4.

Reference Center for Genodermatoses (MAGEC Center), Department of Pathology, Necker-Enfants Malades Hospital, Paris Centre University, 75015 Paris, France.

The onset of blisters in a neonate or an infant is often a source of great concern for both parents and physicians. A blistering rash can reveal a wide range of diseases with various backgrounds (infectious, genetic, autoimmune, drug-related, traumatic, etc.), so the challenge for the dermatologist and the pediatrician is to quickly determine the etiology, between benign causes and life-threatening disorders, for a better management of the patient. Read More

Ugeskr Laeger 2021 06;183(25)

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. This is a case report of a rare case of incontinentia pigmenti in a newborn male who presented with characteristic skin eruptions following Blaschko's lines. Read More