Incontinentia Pigmenti (Bloch-Sulzberger Syndrome)

Abstract

Incontinentia pigmenti is a rare disease.Because it is regarded as a dermatologic problem, few cases have been reported in the pediatric literature. This case is presented to illustrate the multisystem involvement which may be seen in the infant. Report of CaseA 9-month-old white girl was admitted to Michael Reese Hospital on Feb. 28, 1957. The family history was negative, the mother had not been ill during pregnancy, and the delivery was normal. The history of illness dates from the second day of life, when a generalized vesicular eruption appeared and a diagnosis of epidermolysis bullosa was considered. She was treated with oral hydrocortisone (Cortef) and Mazon (a combination of phenolic substances and organic mercury compound) and Terra-Cortril (an ointment containing 3% oxytetracycline HCl and 1% hydrocortisone, free alcohol) ointments. She was also placed on hypoallergenic soya formula (Sobee) feedings. As the bullae disappeared, a generalized eruption was noted consisting of purpuric, urticarial, papular, and warty characteristics. The child did well until age 5 months. She gained satisfactorily in both height and weight, had good head control, and was able to sit without support.Her cutaneous lesions aroused interest, and she was presented before a meeting of the Indiana Dermatological Society. The diagnoses suggested were incontinentia pigmenti and pachyonychia congenita.* At age 5 months she developed a tem¬ perature of 105 F, a bulging fontane!, and con¬ vulsions, and she was hospitalized. Spinal fluid examination revealed pleocytosis, mostly lympho¬ cytes, an elevated protein, and normal glucose. Bacteria and fungi were not found on smear or culture. No fluid was obtained on subdural tap.At this time pox-like lesions were noted on the forehead, and smears of these revealed inclusion bodies when stained with Giemsa's reagent. A serum complement-fixation titre of 1 :64 for herpes sim¬ plex was obtained at the laboratories of the State Board of Health, Indianapolis. Treatment with chloramphenicol and penicillin was started and continued until an intermediate strength and second strength P. P. D. were found positive. At this time isoniazid (INH) and streptomycin were started and continued for three months. She was then transferred to the Indiana University Medical Center for further evaluation. The diagnosis at the time of transfer was incontinentia pigmenti and possible chronic pachymeningitis due to herpes simplex. Significant findings on this hospital admis¬ sion were streaked pigmentations located on the trunk and extremities, strabismus, nystagmus, optic atrophy, poor head control, mild opisthotonos, hyperactive tendon reflexes, a wailing cry, and a right hemiparesis. Subdural taps were performed, yielding substantial amounts of bloody fluid from the right side and clear fluid from the left, with a high lymphocyte count. Several lumbar punctures again showed pleocytosis, elevated protein, and negative culture for pyogenic and acid-fast organ¬ isms. An electroencephalogram revealed rather marked asymm...

Destructive Encephalopathy in Incontinentia Pigmenti: A Case Report

“…Many other CNS manifestations have been observed, such as spastic tetraplegia, hemiplegia, diplegia, slow motor development, psychomotor retardation, mental retardation, cerebellar ataxis, congenital hearing loss, and abnormal EEG (2-4, 7). The pathologies of the CNS malformations include microcephaly, hydrocephalus, cerebral cortical atrophy, gyral dysplasia, cortical necro- (14,15). Van Bogaert (16) described an unusual case of IP who developed ataxia at 6 years, visual impairment at 9 years, and died at 13 years of age.…”

Encephalitis in two members of a family with Incontinentia pigmenti (Bloch-Sulzberger syndrome)

“…by herpes simplex virus. A raised serum titre for herpes simplex and inclusion bodies in a smear from a bulla were found in a five month old girl with Bloch-Sulzberger syndrome (Mendelsohn et al, 1959). Herpes simplex virus was demonstrated in the fluid from vesicles in another infant girl (Palmgren, 1962).…”

“…proliferative embryogenic malformations (Recondo and Haguenau, 1975). However, pneumoencephalography in different cases has shown dilated ventricles which have been interpreted as the results of cerebral atrophy of different origins (Mendelsohn et al, 1959;Kauste and Paatela, 1961;McPherson and Anth, 1963;Kellner and Kiilz, 1967). There are only two previous reports concerning the neuropathology of Bloch-Sulzberger syndrome.…”

Incontinentia Pigmenti (Bloch‐Sulzberger Syndrome) with Cerebral Malformation

“…spastic tetraplegia and \evere retardation, when present, are manifest at an early age and are not progressive, which usually suggests cerebral tnalformation, but no observations on the brains in such cases have yet been reported. Pneilmoencephalography has been carried out in a few patients and has shown dilated ventricles which have been interpreted as the result of cerebral atrophy (Mendelsohn et a/. 1959, Kauste and Paatela 1961, McPherson and Auth 1963, or arrested hydrocephalus (Miller 1952).…”