Acute disseminated encephalomyelitis in an infant with incontinentia pigmenti

We report the case of a female Japanese infant who was diagnosed with incontinentia pigmenti (IP) on the basis of the clinical and pathological findings of characteristic skin lesions and the detection of deletion in the nuclear factor-kappa B essential modulator gene at Xq28. The patient developed repetitive seizures at the age of 7 months when she was diagnosed with acute disseminated encephalomyelitis (ADEM), an inflammatory demyelinating disease of the central nervous system that often occurs after vaccination or infection. The causative infectious agent in this patient seemed to be Mycoplasma pneumoniae because of the increased titer of its serum antibody and the detection of its DNA in the initial cerebrospinal fluid sample. This patient showed significant improvement on receiving immunosuppressive therapy with corticosteroids. This is the second case report presenting an IP patient susceptible to ADEM, and therefore, ADEM should be considered early in the differential diagnosis of acute neurological illness for IP patients.     

儿童色素失禁症临床特点研究

目的总结色素失禁症的临床特点。方法报告以癫痫持续状态为首发的色素失禁症1例,并复习文献明确诊断的67例,共68例进行临床研究。结果68例色素失禁症患几均有皮肤损害,其余损害发生率排列顺序分别为牙齿、神经系统、头发、眼部及指甲。皮肤损害均在出生后6个月内发病,90％均在新生儿期发病,神经系统发病较严重,其中以癫痫发作多见,严重者可致死亡。结论色素失禁症均有皮肤损害,神经系统损害较重,分子生物学诊断提高诊断准确率。     

Unusual hyperpigmented patches,an undeveloped breast and a cataract in a female with incontinentia pigmenti

A 19‐year‐old female and her mother visited our department with a history of unusual reticular brown‐black patches on their trunks and limbs since infancy. Besides the obviously fulsome hyperpigmentation, the daughter also showed other unusual clinical manifestations such as generalized hypohidrosis, especially on the hyperpigmented patches, cicatricial alopecia, a cataract on her right eye, abnormal teeth and a right dysplastic breast. The mother had a median diastema between her maxillary central incisors, hypoplasia of the enamel, hypohidrosis and hyperpigmented patches on her left thoracic region. Analysis of the NEMO (NF‐κB essential modulator) gene in the patient and her mother revealed a deletion of exons 4–10. Their EDA and EDAR genes were normal.     

Incontinentia pigmenti: a rare pathology with complex rehabilitative aspects

Abstract

Purpose: Incontinentia pigmenti (IP), or Bloch-Sulzberger syndrome, is a rare X-linked dominant genetic disorder with multisystem involvement. To our knowledge, there are no previous reports about rehabilitation in IP adult with intact cognitive development. We report a 20-year-old lady with IP managed and followed into adulthood. Method: Patient management and rehabilitation programs from birth to the last follow-up. Results: There was normal cognitive development despite magnetic resonance imaging (MRI) evidence of white matter, corpus callosum and brainstem hypoplasia. Extensor spasticity was present on both lower limbs for which she underwent rehabilitation from the age of one. Botulinum toxin injections were performed and when she was 15 years old she underwent functional surgery. Conclusion: The absence of mental retardation in our patient enabled us to carry out an active rehabilitation program and provide her with maximum independence in locomotion and in activities of daily living.

• Implications for Rehabiliation

• Incontinentia pigmenti (Bloch-Sulzberger syndrome).

• Incontinentia pigmenti is a rare X-linked dominant genetic disorder with multisystemic involvement.

• Skin lesions, neurological impairments, motormental retardation, skeletal congenital defects and ophthalmologic involvement are IP most frequent manifestations.

• Due to the complex multisystem involvement resulting in severe long-term disability, patients with IP require a multidisciplinary team approach for rehabilitation.

• In IP patients, rehabilitation interventions should always take into consideration the individual phenotype expression, child’s physical development and personal needs.

     

Ocular findings in incontinentia pigmenti

Incontinentia pigmenti is an uncommon disorder affecting females, and is associated with ocular, dental, skeletal, and central nervous system abnormalities. Ocular abnormalities are found in 35% of cases. The authors present an eight-month-old girl with neonatal history of skin bullae, who was noted to have esotropia, leukocoria, and a fixed pupil. Histologic examination of the enucleated globe reveals total retinal detachment with retinal neovascularization into the collapsed vitreous, reactive retinal gliosis, and scattered giant nodular proliferations of retinal pigment epithelium. It is suggested that the underlying defect is at the level of the retinal pigment epithelium and that the neurosensory retinal changes are secondary.     

A Case of a Surviving Male Infant with Incontinentia Pigmenti

Incontinentia pigmenti (Bloch-Sulzberger''s disease) is an X-linked dominantly inherited disorder which is usually lethal in hemizygous males, but rarely found in male infants. It can be explained by the presence of an extra X chromosome (Klinefelter''s syndrome), hypomorphic mutations, and somatic mosaicism. We herein report a rare case of incontinentia pigmenti with typical course of skin manifestation in normal karyotype (46, XY) male infant.     

Nail dystrophy, an unusual presentation of incontinentia pigmenti

We describe a 57-year-old woman with a history of nail dystrophy since the age of 11 years. Multiple nail clippings were negative and multiple empirical treatments for presumed onychomycosis were unsuccessful. The patient has a daughter with classical incontinentia pigmenti. Molecular genetic analysis was positive for the NEMO gene deletion on the X chromosome, confirming the diagnosis of incontinentia pigmenti. Nail dystrophy was the sole feature of the disease in our patient.     

Incontinentia pigmenti in Arizona Indians including transmission from mother to son inconsistent with the half chromatid mutation model

Incontinentia pigmenti (IP) is an X-linked dominant disease, usually lethal to males. To explain occasional sporadic IP males, the half chromatid mutation model (Gartler & Francke 1975) has been invoked (Lenz 1975). We here report four cases of American Indians with IP. Two girls had sporadic IP. One affected boy's mother had IP. This is the first report of mother-to-son transmission of IP, indicating that a male with an inherited whole chromatid mutation for IP can escape lethality.     

Extracutaneous analogies of Blaschko lines

In females, early random X-chromosome inactivation in the late blastocyst and subsequent embryonic development cause a random distribution of cells with an active paternal or maternal X-chromosome. Carriers of X-linked disorders are mostly healthy but, when thoroughly examined, may display a characteristic pattern of partial involvement, which for the skin, is known to follow the lines of Blaschko. Comparable patterns of involvement have been seen in various other organs. The evaluation of carriers who are heterozygous for X-linked disorders, therefore, is an efficient method for the study of functional genetic mosaicism in humans. The same patterns can also be seen in case of early embryonic somatic mutations. Am. J. Med. Genet. 85:338–341, 1999. © 1999 Wiley-Liss, Inc.