Incontinentia pigmenti (Bloch-Sulzberger syndrome) manifesting as painful periungual and sublingual tumours

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    From the Departments of Plastic Surgery and Dermatology, Frenchay Hospital, Bristol, UK

    A 25year-old lady presented with painful periungual tumours which were associated with lytic changes of underlying terminal phalanges. She had been previously treated as a case of chronic paronychia but the problem recurred. She was subsequently diagnosed as a case of Zncontinentiu pigmenti which is a rare genodermatosis with mixed ectodermal and mesodermal polydysplasias, onchychodystrophy being a very rare manifestation.

    She was treated by excision of painful finger lesions, but there is no specific treatment for the underlying condition. Journal of Hand Surgery (British and European Volume, 1993) 18B: 667-669

    Zncontinentia pigmenti is a rare congenital disorder characterized by mixed ectodermal and mesodermal polydysplasia. It is transmitted as an X-linked dominant trait which is usually lethal in male foetuses, the con- dition being seen almost exclusively in females. The cutaneous and commoner systemic manifestations make it a fairly well known clinical entity to dermatologists, neurologists, ophthamologists and oral surgeons.

    The aim of this case report is to draw the attention of hand surgeons to this condition which may present painful periungual tumours as a late manifestation.


    A 25year-old lady presented with finger-nail problems dating back 4 years, at which time she had been managed as a case of chronic paronychia of her left middle finger. 6 months later she consulted a dermatologist with a painful growth on the radial aspect of the same finger- nail (Fig l), which he thought might be a keratoacan- thoma. A similar lesion was also noted under her right thumb-nail. Both lesions were radiolucent with lytic changes of the underlying terminal phalanges (Figs 2 and 3). Excision biopsy and histological examination of the lesions showed keratinous material with hyperplastic and hyperkeratinized squamous epithelium, and non- specific chronic inflammation of underlying connective tissue. These features were not those of keratoacan- thoma, but the possibility of a well differentiated squam- ous cell carcinoma could not be absolutely excluded. No pathological fungi were seen in or isolated from the biopsied tissue, and no definite diagnosis was reached.

    The patient was later referred to us complaining of a painful heaped up keratotic lesion beneath her right index finger-nail; similar but milder changes were present beneath other nails. At this stage some unusual streaky hypopigmented and atrophic changes were noticed on her legs. The patient said that similar patches were present on the legs of her sister whose baby daughter had incontinentia pigmenti. A diagnosis of this condition was made, and because the nature of the painful subung- ual lesion was still uncertain, excision biopsy was done.

    Fig 1 Keratotic growth on the radial aspect of the left middle finger.

    Histology showed hyperkeratosis, para-keratosis and hypergranulosis with irregular acanthosis of the epider- mis. These features were said to be suggestive of a viral wart but there was no suggestion of malignancy.

    It was concluded that the patients problem was an onychological manifestation of the incontinentiapigmenti syndrome. She was offered palliative resection of the remaining painful lesions.



    Fig 2 Lytic changes in terminal phalanx of left middle finger.


    Incontinentia pigmenti is a rare inherited systemic dis- order with mixed ectodermal and mesodermal poly- dysplasias (Gurevitch et al, 1973). Its aetiology is unknown, and although viral infection during pregnancy has been postulated, no clear correlation has been demonstrated (Carney, 1976). Most cases are familial, with an X-linked dominant mode of inheritance which is usually lethal in male foetuses. Cases occurring with no family history are suggestive of genetic mutation. Some of the few reported male cases had Klinefelters syndrome (47 XXY karyotype; Ormerod et al, 1987; Prendiville et al, 1989; Garcia-Dorado et al, 1990), and the possibility of the second X chromosome protecting against foetal death has been suggested (Prendiville et al, 1989). Turners syndrome (X0 karyotype) with mosaicism (46Xx/46X0), was found in a study of ten female cases from three families (Garcia-Bravo, 1986), the 46XX component being apparently responsible for foetal survival in this case.

    The cutaneous manifestations of incontinentia pig- menti occur in stages. Clear raised blisters in a linear

    Fig 3 Lytic changes in terminal phalanx of the right thumb.

    distribution may occur in the neonatal period and are followed by plaques and warty lesions which disappear over several months. Highly characteristic splashed or Chinese figure pigment changes occur on the trunk and limbs where the rash had been present, reaching their peak in the second year, and then tending to fade very slowly. Hypopigmented and atrophic streaks are not infrequently found in the late stages of incontinentia pigmenti especially over the calves, and persist in adult- hood as a marker of the disease.

    The associated systemic anomalies vary in occurrence and severity. Dental anomalies were the most common associated defect in one study, followed by ocular and hair anomalies. Nail dystrophy beginning in childhood occurred much less frequently and was seen in 7.1% of the study population (Carney, 1976). Syndactyly, cleft lip and palate (Yell et al, 1991) and many other associ- ated anomalies have been described.

    A few workers have reported the association with subungual tumours in adolescence or early adulthood (Hartman, 1966; Mascaro et al, 1985; Simmons et al, 1986). Our patient first presented to us with a painful tumour on the radial aspect of her left middle finger


    (Fig l), so the subungual location of these painful lesions is not invariable, and periungual would be a more appropriate descriptive terminology. The histological features of the lesions in reported cases were virtually identical with those found in our patient. The origin of lytic changes in the underlying phalanges is uncertain, and may be secondary pressure phenomena (Mascaro et al, 1985), or intrinsic manifestations of incontinentiu pigmenti (Simmons et al, 1986).

    Our patient demonstrates some of the various associ- ated anomalies of the incontinentia pigmenti syndrome, as records show that she was born blind in the right eye, and presented with dental deformities and partial anodontia at 13 years. Painful periungual tumours devel- oped at 21 years; pigmentary skin changes were noticed at 25 years, at which age she had a baby daughter with incontinentia pigmenti. She had had previous miscar- riages, perhaps due to conception of foetuses with lethal genes for the condition.

    The diagnosis of incontinentia pigmenti is essentially clinical and relies heavily on thorough medical and family histories. Clinicians involved in the care of these patients must be able to identify the cutaneous markers and systemic features. There is no specific treatment for the condition. Genetic counselling is important, and male cases should undergo full genetic investigations. When severe neurological manifestations are not present, life expectancy is unaffected.

    Onychodystrophic changes with painful periungual tumours can be a late manifestation of incontinentiu

    pigmenti. The hand surgeon may be consulted on the management of these finger-nail lesions, which are unre- sponsive to non-surgical treatment, and therefore needs to be aware of the condition.

    References CARNEY, R. G. (1976). Incontinentia pigmenti: A world statistical analysis.

    Archives of Dermatology, 112: 535-542. GARCIA-BRAVO, B., RODRIGUEZ-PICHARDO, A. and CAMACHO-

    MARTINEZ, F. (1986). Incontinentia pigmenti: Study of three families. Annals of Dermatology and Venereology, 113: 301-308.

    GARCIA-DORADO, J., DE UNAMUNO, P., FERNANDEZ-Lt)PEZ, E., SALAZER-VELOZ, J. and ARMIJO, M. (1990). Incontinentia pigmenti: XXY male with a family history. Clinical Genetics, 38: 128-138.

    GUREVITCH, A. W., FARRELL, W., HORLICK, S., HIROSE, F. and REISNER, R. M. (1973). Incontinentiapigmenti: A systemicgenodermatosis with striking cutaneous findings. Clinical Paediatrics, 12: 7: 396-401.

    HARTMAN, D. L. (1966). Incontinentia pigmenti associated with subungual turnours. Archives of Dermatology, 94: 632-635.

    MASCARO, .I. M., PALOLJ, J. and VIVES, P. (1985). Painful subungual kera- totic tumors in incontinentiapigmenti. Journal of the American Academy of Dermatology, 13: 913-918.

    ORMEROD, A. D., WHITE, M. I., MCKAY, E. and JOHNSTON, A. W. (1987). Incontinentia pigmenti in a boy with Klinefelters syndrome. Journal of Medical Genetics, 24: 7: 439-441.

    PRENDIVILLE, J. S., GORSKI, J. L., STEIN, C. K. and ESTERLY, N. B. (1989). Incontinentia pigmenti in a male infant with Klinefelter syndrome. Journal of the American Academy of Dermatology, 20: 937-940.

    SIMMONS, D. A., KEGEL, M. F., SCHER, R. K. and HINES, Y. C. (1986). Subungual tumors in incontinerztia pigmenti. Archives of Dermatology, 122: 1431-1434.

    YELL, J. A., WALSHE, M. and DESAI, S. N. (1991). hontinentia pigmenti associated with bilateral cleft lip and palate. Clinical and Experimental Dermatology, 16: 49-50.

    Accepted: 6 April 1993 P. L. G. Townsend FRCS, Department of Plastic Surgery, Frenchay Hospital, Bristol, UK.

    0 1993 The British Society for Surgery of the Hand


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