Incontinentia pigmenti (sulzbergerbloch type)

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  • indian J. Pediat. 36 : 224, 1960

    INCONTINENTIA PIGMENTI (SULZBERGER--BLOCH TYPE)*

    Report in a Male

    K.K. KnANNA, A.J. VELlATH AND T.R. BEDI

    New Delhi

    Incontinentia pigmenti is a rare pigmentary disorder which derives its name from the belief that melano- cytes in such patients are incontinent of their abundant product. Two main forms are distinguished on the basis of physical signs. The Sulzberger- Bloch type occurs almost exclusively in females, with splash-like pigmen- tation and absence of malformations. The Naegeli type affects both sexes, with reticular pigmentation and congenital defects involving the eyes, heart, brain, teeth and musculo- skeletal system. Lenz (1961) reviewed the literature on 216 reported eases and found only 6 in males. We observed a boy with Sulzberger-Bloch type of incontinentia pigmenti with associated malformations.

    Report of A Case

    H., a 12-year-old boy presented with the complaints of generalized pigmen- tation and delayed physical and mental development. There was no history of preceding vesicles, fever, convul-

    *From the Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, 16.

    sions or weakness. Prenatal and perinatal events were unremarkable and in particular, there was no history of viral infection. The motor milestones were grossly delayed and intellectual achievements were subnormal. The parents and 9 siblings were healthy.

    Physical examination showed a stunted child weighing 25 Kg. with a height of 124 cm. Head circumference was 50 cm. Brownish-black pigmen- tation involved the whole of the body, and was distributed as parallel lines, whorls and stellate patches, giving the characteristic 'marble-floor' appearance (Fig. I). There was no distinct alignment along the cutaneous nerves or the midline. The left iris showed a coloboma and normal fundi. The hands were short and square, with contracture of both little fingers. There was syndaetyly involving the middle and ring fingers. The right hand had an extra digit. The radius on the right side was dislocated anteriorly. The testes were not palpable either in the scrotum or the inguinal canal. The phallus was small. The liver was palpable by 2 ern. below the costal margin, firmish and non-

  • INCONTINENTIA PIGMENTI (SULZBERGER--BLOCH TYPE) 225

    tender. The spleen was palpable by 3 cm. The intelligence quotient was 40. Other systems were normal. In vestigations.

    Skiagrams of the chest, the skull and spine were normal. X-ray of the hands showed small metacarpals. Blood counts were normal; there was no eosinophilia. A buccal smear was chromatin-negative and chromosomal studies showed a normal karyotype.

    Histopathology. The epidermis showed hyperkeratosis, mild parakera- tosis and acanthosis with deep pig- mentation of the basal cells (Fig. 2). Occasional basal cells appeared to be degenerated with vacuolated cytoplasm (Fig. 3). The dermis contained a few lymphocytes and occasional plasma cells, with a perivascular distribution. Among inflammatory cells, a few melanophores loaded with pigment were seen. Melanin was also observed lying free in the upper dermis. The histological features were considered compatible with the third stage of incontinentia pigmenti.

    Comment

    The cutaneous manifestations of incontinentia pigmenti generally appear in three stages--vesicular inflamma- tory lesions are the first to show in early infancy, followed by verrucous and later pigmentary patches. In some cases, pigmentation ensues de novo without the prece- ding stages. ASsociated abnormalities

    include mental retardation, seizures, strabismus, dental hypo-or hyperplasia, coloboma, retinal degeneration, congenital heart disease, spastic paralysis, retarded. growth and alopecia. The occurrence of these anomalies in the Sulzberger-Bloch type is seldom seen.

    The familial occurrence of the syndrome (Kuster and Olbing, 1964) indicates an inherited basis. A dominant X-linked gene might explain the transmission pattern in many families, but autosomal location of the abnormal gene/s has to be considered in cases with no family history. A polyhybrid mode of inheritance is also possible, parti- cularly in patients with abnormalities involving other systems.

    Summary

    A 12-year-old boy showed charac- teristic features of incontinentia pigmenti (Sulzberger-Bloch type) and associated anomalies of coloboma, undescended testes, mental retarda- tion, syndactyly and short metacarpals.

    The patient was admitted to the unit of Dr. R.K. Chandra, to whom the authors are thankful for criticism of the manuscript.

    References

    Kuster, F. and Olbing, H. (196~,). Incontincntia pigmenti : Report on 9 cases in one family with one autopsy. Ann. Paediat. 202 ; 92.

    Lenz, V.W. (1961). Zur Genetik dcr Inr tinentia Pigmenti. Ibid. 196, 149.

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