Incontinentia Pigmenti (IP) is an X-linked dominant genodermatosis caused by a mutation of the NEMO or IKBKG gene. Cutaneous manifestations are common, however, involvement of the eyes, teeth, and central nervous system can also be seen. Genetic counseling plays a vital part in the management, as well as a multidisciplinary approach involving other specialties.

This is a case of a newborn female with unremarkable birth and maternal history who presented with erythematous papules, vesicles, and pustules on the trunk, upper extremities, and lower extremities upon birth. She was born term via normal spontaneous delivery to a 34-year-old G1P0 with no known personal and family history of dermatologic or other genetic conditions. On the 5th day of life, lesions started to form a whorl-like appearance, eventually turning hyperpigmented, with a blaschkoid distribution. Skin punch biopsy revealed several eosinophils on the dermis highly suggestive of IP. Dermoscopy showed polycyclic scaling with a yellowish center and erythematous halo. Genetic testing revealed a heterozygous pathogenic deletion encompassing exons 4-10 of the IKBKG gene, confirming the diagnosis of IP. Genetic counseling was done. The patient’s family was advised periodic monitoring and surveillance.

Dermoscopy in IP can provide an earlier diagnosis. Stage I shows a yellowish center and erythematous halo with yellowish serocrusts surrounded by polycyclic scaling. Only two cases of IP dermoscopy have been published so far. Dermoscopy complements histopathology in IP.

Anodontia ; Humans ; Incontinentia Pigmenti ; therapy

The purpose of this study is to report a successful twin pregnancy and delivery in a female patient with X-linked dominant incontinentia pigmenti (IP) who underwent assisted reproductive technology followed by preimplantation genetic screening (PGS). A 29-year-old female with IP had a previous history of recurrent spontaneous abortion. A molecular analysis revealed the patient had a de novo mutation, 1308_1309insCCCCTTG(p.Ala438ProfsTer26), in the inhibitor of the kappa B kinase gamma gene located in the Xq28 region. IVF/ICSI and PGS was performed, in which male embryos were sexed using array-based comparative genomic hybridization (aCGH). After IVF/ICSI and PGS using aCGH on seven embryos, two euploid male blastocysts were transferred with a 50% probability of a viable male pregnancy. The dizygotic twin pregnancy was confirmed and the amniocentesis results of each twin were normal with regard to the mutation found in the mother. The patient delivered healthy twin babies during the 37th week of gestation. This case shows the beneficial role of PGS in achieving a successful pregnancy through euploid male embryo gender selection in a woman with X-linked dominant IP with a history of multiple male miscarriages.
Abortion, Habitual ; Abortion, Spontaneous ; Adult ; Amniocentesis ; Blastocyst ; Comparative Genomic Hybridization ; Embryonic Structures ; Female ; Genetic Testing* ; Humans ; Incontinentia Pigmenti* ; Male ; Mothers ; Phosphotransferases ; Pregnancy ; Pregnancy, Twin ; Preimplantation Diagnosis ; Reproduction* ; Reproductive Techniques, Assisted ; Twins, Dizygotic ; X Chromosome

Incontinentia pigmenti (IP) is an uncommon X-linked, dominantly inherited disorder due to a mutation in the NEMO (NF-kappaB essential modulator) gene on the X chromosome. IP mostly occurs in female infants, it is usually embryonic lethal in males. The mechanisms for survival of affected males are explained by the presence of an extra X chromosome (Klinefelter's syndrome), hypomorphic mutations, and somatic mosaicism. We report here a rare case of incontinentia pigmenti in a 13-year-old boy with Klinefelter's syndrome, NEMO gene mutation, and whorled, hyperkeratotic, hyperpigmented, linear lesions along the lines of Blaschko on the trunk and leg.
Adolescent ; Female ; Humans ; Incontinentia Pigmenti* ; Infant ; Klinefelter Syndrome* ; Leg ; Male ; Mosaicism ; X Chromosome

Incontinentia pigmenti (IP) is a rare X-linked dominant disease that is typically lethal to males and usually affect female patients. IP is a neurocutaneous disorder, involving the ectodermal tissues such as the skin, eyes, teeth, hair, and central nervous system. The pathogenesis of IP is linked to the gene mutation in the NF-kappa B essential modulator (NEMO) on chromosome Xq28. We experienced one case of newborn with multiple vesiculobullous skin lesions over the entire body after birth. Skin biopsy and histologic studies revealed suspected IP stage I and the genetic analysis of the NEMO confirmed IP diagnosis. A brain MRI showed multiple cerebral infarctions and the infant has shown delayed development in follow-up clinic.
Biopsy ; Brain ; Brain Infarction ; Central Nervous System ; Cerebral Infarction ; Ectoderm ; Eye ; Female ; Follow-Up Studies ; Hair ; Humans ; Incontinentia Pigmenti ; Infant ; Infant, Newborn ; Male ; Neurocutaneous Syndromes ; NF-kappa B ; Parturition ; Skin ; Tooth

Incontinentia pigmenti (IP) is a rare X-linked dominant, multisystem genodermatosis that affects ectoderm-derived structures. Its cutaneous manifestations are usually subdivided into the vesicular, verrucous, hyperpigmented, and hypopigmented or atrophic stages. IP can also affect other ectoderm-derived structures, such as, hair, nails, teeth, eyes, and the central nervous and musculoskeletal systems. About 80% of IP patients have genomic deletions of exons 4~10 of the NEMO (NF-kappaB-Essential MOdulator) gene, also known as the IKKgamma (gamma-subunit of the inhibitor kappaB kinase), which is essential for the activation of the NF-kappaB pathway. The female infant presented in this case report was born to healthy non-consanguineous parents and showed vesiculopustular eruptions with a NEMO gene rearrangement. No IP case has been previously reported to be related to a NEMO gene mutation in South Korea. In other words, this is the first report to confirm the relation between IP and mutation of the NEMO gene in Koreans.
Exons ; Eye ; Female ; Gene Rearrangement ; Hair ; Humans ; Incontinentia Pigmenti ; Infant ; Musculoskeletal System ; Nails ; NF-kappa B ; Parents ; Republic of Korea ; Tooth

Incontinentia pigmenti (IP) (OMIM #308300) is a rare X-linked dominant neuroectodermal multisystemic syndrome due to mutations in the gene for NF-kappaB essential modulator (NEMO). A term newborn girl who was born with erythematous vesicular eruptions developed recurrent seizures during the first and second weeks of her life. The serial MRIs demonstrated diffuse, progressive brain infarctions and subsequent encephalomalacia as well as brain atrophy. Skin biopsy found it was consistent with the vesicular stage of IP. Genetic analysis revealed a deletion exon 4-10 in NEMO gene associated with IP. We hereby report a Korean female baby with IP confirmed by mutation analysis of NEMO gene.
Asian Continental Ancestry Group ; Brain/pathology ; DNA Mutational Analysis ; Female ; Humans ; I-kappa B Kinase/*genetics ; Incontinentia Pigmenti/*genetics/pathology ; Infant, Newborn ; *Mutation ; Skin/pathology

Incontinentia pigmenti (IP) is a rare X-linked dominant disorder characterized by highly variable abnormalities of the skin, eyes and central nervous system. A mutation of the nuclear factor-kappa B essential modulator (NEMO) located at Xq28 is believed to play a role in pathogenesis and the mutation occurs mostly in female patients due to fatal consequence of the mutation in males in utero. This study was designed to identify the common NEMO rearrangement in four Korean patients with IP. Deletion of exons 4 to 10 in the NEMO, the most common mutation in IP patients, was detected in all of the patients by the use of long-range PCR analysis. This method enabled us to discriminate between NEMO and pseudogene rearrangements. Furthermore, all of the patients showed skewed XCI patterns, indicating pathogenicity of IP was due to cells carrying the mutant X chromosome. This is the first report of genetically confirmed cases of IP in Korea.
Alleles ; Asian Continental Ancestry Group/*genetics ; Chromosomes, Human, X ; Exons ; Female ; Humans ; I-kappa B Kinase/*genetics ; Incontinentia Pigmenti/*genetics/pathology ; Polymerase Chain Reaction ; Republic of Korea ; *Sequence Deletion

PURPOSE: To study the fundus findings in the peripheral retina using examination under general anesthesia in patients showing vitreoretinopathy in the unilateral posterior pole of the eye. METHODS: The records of 27 patients showing vitreoretinopathy in the unilateral posterior pole of the eye were retrospectively reviewed. Analysis of the records for the fundus finding was performed using indirect ophthlamoscopy at the outpatient clinic, fundus findings and results of fluorescein angiography during examination under general anesthesia. RESULTS: The viteroretinopathies in the unilateral posterior poles were retinal vascular and vitreous abnormality including avascular area in seven eyes (16%), retinal dragging in 14 eyes (32%), retinal folding in 21 eyes (48%), and total tractional retinal detachment in two eyes (5%). The final clinical diagnoses were familial exudative vitreoretinopathy in 33 patients, incontinentia pigmenti in four eyes, and idiopathic vitreoretinopathy in seven eyes. Abnormal findings in the peripheral retina of the contralateral eye were observed in 27 eyes (61%) when examined under general anesthesia. Leakage in fluorescein angiography was found in 17 contralateral eyes (39%). The treatment including diode laser photocoagulation and cryotherapy was performed in eyes showing active leakage. CONCLUSIONS: Examination of the bilateral fundus is important in patients showing vitreoretinopathy in the unilateral posterior pole. The examination under anesthesia was helpful for diagnosis, evaluation and treatment in patients showing vitreoretinopathy in the unilateral posterior pole of the eye.
Ambulatory Care Facilities ; Anesthesia ; Anesthesia, General ; Cryotherapy ; Eye ; Fluorescein Angiography ; Humans ; Incontinentia Pigmenti ; Lasers, Semiconductor ; Light Coagulation ; Retina ; Retinal Detachment ; Retinaldehyde ; Retrospective Studies ; Traction

Incontinentia pigmenti is a systemic disorder affecting the skin, teeth, eyes, nervous tissue, hair, nails, musculoskeletal system, and heart. We describe an 11-month-old girl with incontinentia pigmenti associated with a ventricular septal defect, left hemiatrophy, hemangiomas, an abnormal labial frenum, and spastic cerebral palsy manifested as left hemiplegia and developmental delay. We believe this patient illustrates that incontinentia pigmenti is a systemic disorder necessitating a multidisciplinary approach to management.
Cerebral Palsy ; Eye ; Hair ; Heart ; Heart Septal Defects, Ventricular ; Hemangioma ; Hemiplegia ; Humans ; Incontinentia Pigmenti ; Infant ; Labial Frenum ; Musculoskeletal System ; Nails ; Skin ; Tooth