Incontinentia pigmenti in the neonatal period

Rodrigues, Vera; Diamantino, Filipa; Voutsen, Olga; Cunha, Manuel; Barroso, Rosalina; Lopes, Maria João Paiva; Carreiro, Helena

doi:10.1136/bcr.01.2011.3708

Cited by 4 publications

(6 citation statements)

References 9 publications

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“…The pigment melanin is usually located in the melanocytes of the basal epidermal layer; however, this pigment is seen in the superficial layer in the IP. 11 The incidence of IP is very low (approximately 0.0025%). 12 It can be familial or sporadic due to spontaneous mutation; as seems to be in our case.…”

Section: Discussionmentioning

confidence: 99%

Incontinentia pigmenti: a rare case of neurocutaneous disorder in the newborn

Dave

Berwal²,

Patel³

et al. 2020

Int J Contemp Pediatr

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Incontinentia pigmenti (IP) is a rare X linked dominant genetic multisystem neurocutaneous disorder that may affect many organs including the skin, bone, eyes and the central nervous system. Central nervous system manifestations are seen in 30%-40% of cases with seizures and mental retardation. Seizures as the presenting sign of IP in neonates are rarely reported. We report a case of a female newborn with IP who had pleomorphic skin rashes and erythematous vesicles over upper and lower extremities since 5th day of life which were followed by seizures on day 22nd of life. With this case report, we would like to emphasize the need for inclusion of IP in the differential diagnosis of neonatal seizures and to confirm diagnosis of all such unusual skin lesions histologically.

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Section: Discussionmentioning

confidence: 99%

Incontinentia pigmenti: a rare case of neurocutaneous disorder in the newborn

Dave

Berwal²,

Patel³

et al. 2020

Int J Contemp Pediatr

View full text Add to dashboard Cite

show abstract

“…(1–3) It is frequently lethal in males. (1–3) In this disease, basal cells in the epidermis lose melanin that is collected in the dermis.…”

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“…(1–3) In this disease, basal cells in the epidermis lose melanin that is collected in the dermis. (2,3) Typically, skin manifestations progress through four stages: vesicular (evident at birth or within the first few postnatal weeks); verrucous; hyperpigmented, and hypopigmented. (1–3) Extracutaneous involvement occurs in 80% of patients.…”

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confidence: 99%

“…(2,3) Typically, skin manifestations progress through four stages: vesicular (evident at birth or within the first few postnatal weeks); verrucous; hyperpigmented, and hypopigmented. (1–3) Extracutaneous involvement occurs in 80% of patients. (1) A skin biopsy and/or genetic testing for mutations in NEMO/IKK-gamma confirm the disease.…”

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confidence: 99%

“…(1,5) Since neonatal herpes and IP can coexist, early treatment with acyclovir should be started until definitive diagnosis is made. (1,3) The differential diagnosis of verrucous stage is limited and includes linear epidermal nevus. (1) The hyperpigmented stage is IP's hallmark, but may be mistaken for linear and whorled nevoid hypomelanosis.…”

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confidence: 99%

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