THE SYNDROME PAGE Pediatric Dermatology Vol. 9 No. 3 304-308

Editors: Susan B. Mallory, M.D., and Bernice R. Krafchik, M.B., Ch.B., F.R.C.P.{C)

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Figure 1. Patient 1. Blistering and crusting in first month of life.

Figure 2. Patient 2. Vesicular papules in a linear fashion.

Address correspondence lo Paula Nelson-Adesokan. M.D., Room 7705 Wohl Hospital, Box 8123, St. Louis, MO 63110.

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Figure 3. Patient 3. Crusting of blisters, age 1 month.

Figure 6. Age 6 months.

Figure 4. One month later.

Figure 7. Patchy area of alopecia.

Figure 5. Age 6 months.

Figure 8. Swirling hyperpigmentation on the trunk, age 2 months.

306 . Pediatric Dermatoiogy Vol. 9 No. 3 September 1992

Incontinentia Pigmenti

Figure 9. Reticulated hyperpigmentation, age 6 months. Incontinentia pigmenti (IP), also known as Bloch-Sulzberger syndrome, is an uncommon neurocutaneous genodermatosis that was first described by Bloch in 1926 and later by Suizberger in 1928. It may have been initially recognized by Garrod in 1905 as a peculiar skin pigmentation in an infant (1). The disorder is inherited as an X-linked dominant trait and is probably fatal in male fetuses, which accounts for the female:male ratio of 37:1 (2). Although usually reported in whites, IP has been seen in people of other races as well (2). The cutaneous manifestations of IP consist of four stages. Stage I begins as erythema, vesicles, and inflammation, usually occurring in the first year of life. Clinically, erythematous macules, papules, vesicles, and bullae are grouped in patches, often in a linear fashion. Lesions may occur as recurrent crops for weeks and months. The second (verrucous) stage typically occurs after the vesicular lesions have regressed and is charactedzed by hyperpigmented linear verrucous papules, pustules, or hyperkeratotic streaks. These lesions can persist for 6 to 12 months or longer, are present in 70% of patients with IP, and occur characteristically on the extremities (1). During stage 111, dark brown, hyperpigmented, whorled, asymmetric macules are present on the trunk and sometimes the extremities. They can be streaky, reticulated, or have the appearance of marbled cake. Stage IV may be considered a separate stage or a continuation of stage III. It consists of fading of the hyperpigmented lesions, and hypopigmentation, atrophy, and scarring may be present.

Other cutaneous findings include nail dystrophy, subungual hyperkeratotic tumors (3), lytic deformities of the phalanges (4), diffuse scarritig alopecia, agenesis of the eyebrows, and partial sweat gland aplasia (1). Recently, squamous cell carcinoma in a hyperkeratotic lesion was reported in a 25-year-old patient (5). Extracutaneous findings may be more severe, and include dental, ocular, and central nervous system defects {Table 1). Associated anomalies of unknown significance are less common and include dwarfism, small stature, club foot, spina bifida, cleft lip and/or palate, congenital dislocation of the hips, chondrodystrophy, hemiatrophy, extra ribs, syndactyly. and ear anomalies (1,2,6). Malignancies, although rare, were reported in five patients. These tumors were retinoblastoma, rhabdoid kidney tumor, Wilm tumor, paratesticular rhabdomyosarcoma, and acute monocytic leukemia (7). Laboratory findings may show a high peripheral eosinophilia ranging from 5% to 65%, and also a high leukocyte count. Six of eight patients with IP had a defect in polymorphonuclear chemotaxis with normal iymphocytic subpopulations (8). Histopathologically, the first stage is characterized by eosinophilic spongiosis, dyskeratotic cells (usually seen in all stages), and whorls of squamous TABLE L Associated Anomalies Body System

Specific Anomalies

Dental (67%)

Partial anodontia Late dentition Pegged teeth Impactions Bone cysts Strabismus Blindness Cataracts Retinal pigmentation and detachment Optic nerve atrophy Pseudoglioma Microphthalmus Retinal vascular changes Chorioretinitis Uveitis Seizures Mental retardation Spastic paralysis Motor retardation Abnormal electroencephalogram Microcephalus Hydrocephalus

Ocular (25-35%)

Central nervous system (up to 33%)

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cells. Acanthosis, irregular papillomatosis, hyperkeratosis, basal cell vacuolization, and a mild, chronic, inflammatory infiltrate in the dermis that can extend into the epidermis are seen in the second stage. Extensive melanization is located in the upper dermis in stage IIL In the last stage, biopsy specimens taken from hypopigmented areas show a slightly atrophic epidermis with effacement of the rete ridges and a reduced number of melanocytes at the epidermodermal junction (9). Several theories have been proposed for the etiology. The X-linked dominant expression theory accounts for the female preponderance, but not for the disorder in living males, which appears to be phenotypically identical to IP in females. Other theories are somatic mutations, and the Lyon hypothesis (I). The IP locus, designated as IP1, probably resides in XpIL21, since five unrelated patients possessing autosomal translocations involving Xpll.21 have been identified (10). Increased chromosomal instability was observed in several families and may increase the risk for malignancy (7). Person, however, believed that most of the manifestations of IP could be explained as an autoimmune attack on ectodermai clones, expressing a surface antigen controlled by the mutant X chromosomal gene (11). The early stages of IP in the newborn may mimic other bullous disorders such as epidermoiysis bullosa, bullous impetigo, herpes simplex infection, blistering dmg eruptions, erythema multiforme. epidermolytic hyperkeratosis, and neonatal lupus erythematosus. A quick and easy test that may lead to the diagnosis is to unroof one of the vesicles and observe numerous eosinophils in the fluid under light microscopy. A Tzanck preparation, bacterial and viral cultures, and complete blood cell count may help narrow the differential diagnosis. Skin biopsy and direct immunofluorescence in addition to clinical correlation usually render the diagnosis. The differential diagnosis of the later stages includes Franceschetti-Jadassohn syndrome and hypomeianosis of Ito. The former is associated with yellowing of the teeth, hyperhidrosis, heat intolerance, and palmar-plantar hyperkeratosis, and is inherited as an autosomal dominant trait. The latter was previously described as IP achromians because of the presence of linear hypopigmentation similar to the hyperpigmented lesions (negative image) seen in IP. It is associated with central nervotis system abnormalities. However, the early infiammatory lesions are lacking, and hypopigmentation usu-

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ally occurs in late childhood in hypomeianosis of Ito, and sometimes repigmentation occurs in adulthood. If IP is suspected, a detailed family history should be taken, and a complete skin examination of the mother may shed some light on the diagnosis. Once the diagnosis is confirmed, a complete physical examination of the child should be performed, with neurologic, dental, audiologic, and ophthaimologic evaluations. Early diagnosis of retinopathy by serial examinations and treatment with cryotherapy may prevent blindness caused by progressive neovascularization (12). Genetic counseling is very important and should be tailored to each family. In general, a woman with IP has a one in four chance that pregnancy will result in a spontaneous miscarriage (excluding other complications, genetic and environmental). One-half of her daughters will have IP. If a woman without a history or clinical signs of IP gives birth to a child with IP, the disorder was most likely the result of spontaneous mutation. ACKNOWLEDGMENT We acknowledge with thanks the support of Westwood Pharmaceuticals in underwriting the cost of color illustrations for this section of the journal. Paula Neison-Adesokan, M.D., and Susan B. Mallory, M.D.

Division of Dermatology, Washington University School of Medicine St. Louis, Missouri REFERENCES 1. Cohen BA. Incontinentia pigmenti. Neurol Clin 1987; 5:361-377. 2. Carney RG. Incontinentia pigmenti: a world statistical analysis. Arch Dermatol !976;l!2:53.')-542. 3. Mascaro JM. Palou J, Vives P. Painful subungual keratotic tumors in incontinentia pigmenti. J Am Acad Dermatol 1985:13:913-918. 4. Simmons DA, Kegel MF, ScherRK, Hines YC. Subunguai tumors in incontinentia pigmenti. Arch Dermatol 1986:122:1421-1434. 5. Korstanje PJ, Bessens MJ. Incontinentia pigmenti with hyperkeratotic lesions in adulthood and possible squamous cell carcinoma. Dermatologica 1991 ;183: 234-236. 6. El-Benhami MO. George WM. Incontinentia pigmenti: a review. Cutis 1988:41:259-262. 7. Roberts WM, Jenkins JJ, Moorhead EL, Douglass EC. Incontinentia pigmenti, a chromosomal instability, is associated with childhood malignancy. Cancer 1988:62:2370-2372.

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8. Menni S, Piccinno R, Biolchini A, Plebani A. Immunologic investigations in eight patients with incontinentia pigmenti. Pediatr Dennatol 1990;7:275-277. 9. Zitlikens D, Mehringer A, Lechner W, Btirg G. Hypo- and hyperpigmented areas in incontinentia pigmenti light and electron microscopic studies. Am J Dermatopathoi 1991;13:57-62. 10. Gorski JL, Burright EN, Hamden CE, Stein CK, Glover TW, Reyner EL. Localization of DNA se-

quences to a region within Xp.11.21 between incontinentia pigmenti (IPl) X-chromosomal translocation break points. Am J Hum Genet 1991;48:53-64. 11. Person JR. Incontinentia pigmenti: a failure of immune tolerance? J Am Acad Dermato! 1985,13:120123. !2. Hungerford JR. Early diagnosis of the retinopathy of incontinentia pigmenti: successful treatment by cryotherapy. Br J Ophthalmol 1990;74:377-379.

CALL FOR PAPERS The editors of the Syndrotne Page welcome submissioti of your manuscripts for consideration. Please submit them in triplicate to: Susan B. Mailory, M.D., Department of Dermatology, St. Louis Children's Hospital, 400 S. Kingshighway, St. Louis, MO 63110

Name this syndrome. Incontinentia pigmenti.

THE SYNDROME PAGE Pediatric Dermatology Vol. 9 No. 3 304-308 Editors: Susan B. Mallory, M.D., and Bernice R. Krafchik, M.B., Ch.B., F.R.C.P.{C) Name...
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