Subungual tumors in incontinentia pigmenti

Simmons, D. A.

doi:10.1001/archderm.122.12.1431

Cited by 20 publications

(16 citation statements)

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“…Mutations in the regulatory subunit of Ikk, Ikkg, (NEMO; NF-kB essential modulator) in humans, leads to incontinental pigmenti, including abnormal teeth (e.g. hypodontia, delayed eruption, impaction and malformation of the crowns, including conical shape and accessory cusps) [28 , [31][32][33][34][35]36 ]. These results show that NF-kB activation lies downstream of Eda signaling to mediate molar cusp morphogenesis.…”

Section: Tnf/nf-kb and Cusp Morphogenesismentioning

confidence: 99%

TNF signalling in tooth development

Ohazama

Sharpe

2004

Current Opinion in Genetics & Development

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Section: Tnf/nf-kb and Cusp Morphogenesismentioning

confidence: 99%

TNF signalling in tooth development

Ohazama

Sharpe

2004

Current Opinion in Genetics & Development

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“…A rather rarely associated nail disease in incontinentia pigmenti consists of painful subungual tumours (5,(8)(9)(10)(11)(12)(13)(14)(15). They typically were observed in adulthood (15).…”

Section: Discussionmentioning

confidence: 99%

Late-onset Familial Onychodystrophy Heralding Incontinentia Pigmenti

Bittar¹,

Danarti²,

König³

et al. 2005

Acta Dermato-Venereologica

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Sir, Incontinentia pigmenti (IP) is an X-linked dominant trait that is intrauterine lethal for males. The disorder is caused by NEMO mutations involving the NFKB activation pathway (1). It is characterized by linear skin lesions and various defects of the central nervous system, the teeth and the eyes. The cutaneous lesions are arranged along the lines of Blaschko, reflecting functional X-chromosomc mosaicism (2). Because the diagnosis can now be confirmed or excluded by molecular analysis {!). it is possible to ascertain cases showing a rather mild or atypical involvement. In the present family, nail changes acquired during adulthood were a clue to recognizing two cases of IP. CASE REPORTA 47-year-old woman complained of progressive painful nail changes that she had noted for 2 years. Onychodystrophy involved the thumbs as well as the left second and fourth finger which showed longitudinal ridging. Moreover, the proximal nail folds of the third and fourth fingers of the left hand were deformed, and that of the fourth finger was hypcrplastic (Fig. la). The nails of both thumbs showed a 'sand-blasted' surface. Initially we thought of lichen planus but the patient reported that her maternal cousin had similar changes. A thorough examination of the patient revealed streaky hypopigmented lesions on her calves, becoming more prominent on Wood light examination, and a linear hypopigmentation with slight atrophy running from her left shoulder to the left upper arm (Fig. lb). Several patchy areas of hairlessness were noted on her scalp. Moreover, absence of molar teeth was noted.Her 45-year-oid maternal cousin had noticed disturbed, but asymptomatic, nail growth for 5 years. Her molar teeth were absent. She had had three miscarriages, and one of them was analysed and found to have a normal male karyotype. Her left leg was shorter than her right leg. Cerebral apoplexy had occurred 4 years previously. A thorough examination of this patient revealed streaky hypopigmented lesions on her calves following the lines of Blaschko, becoming more prominent on Wood light examination. Patchy areas of hairlessness were noted on her scalp (Fig. 2). Distal onycholysis and a mild subungual hypcrkeratosis were found on the index and middle fingers of her right hand.Moreover, the proposita reported that her mother had streaky hypopigmented lesions and that a severely malformed eye was removed shortly after birth. The Fi}-. I. (ii) Left hand: Note longitudinal ridging of the nails of the index and ring finger. The proximal nail folds are deformed, and that of ihc ring linger i^ hyperplastic. (b) Left shoulder and upper arm showing a linear hypopigmentation.

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“…As a late manifestation of IP, painful subungual tumors have been documented [8, 9, 10, 11, 12, 13, 14]. The subungual tumors of IP (STIP) usually appear after puberty almost always with multiple lesions, more frequently on the fingers than on the toes.…”

Section: Discussionmentioning

confidence: 99%

Keratoacanthoma Developing on a Pigmented Patch in Incontinentia pigmenti

et al. 2000

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Cutaneous manifestations of incontinentia pigmenti (IP) have classically been described as three sequential stages: an initial vesicobullous stage, a verrucous stage and a stage of swirled pigmentation. Verrucous lesions tend to last longer than vesicobullous eruptions, often persisting until 1 year of age. However, adult patients with verrucous lesions are rare. We report a case of keratoacanthoma with marked dyskeratosis on a pigmented patch in a 20-year-old woman. This tumor, like subungual keratotic tumors of IP, might have been developed as one of the late manifestations of the disease.

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Subungual tumors in incontinentia pigmenti

Cited by 20 publications

References 0 publications

TNF signalling in tooth development

TNF signalling in tooth development

Late-onset Familial Onychodystrophy Heralding Incontinentia Pigmenti

Keratoacanthoma Developing on a Pigmented Patch in Incontinentia pigmenti

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