Incontinencia pigmenti

Cammarata‐Scalisi, Francisco; Fusco, Francesca; Ursini, Matilde Valeria

doi:10.1016/j.ad.2018.10.004

Cited by 23 publications

(16 citation statements)

References 20 publications

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“…The comprehensive clinical diagnostic criteria are as follows: For those with no positive family history, one major diagnostic indicator and one secondary indicator are required to support the diagnosis. If there is a definite positive family history, the diagnosis can be made with only one clinical criterion[ 7 , 8 ].…”

Section: Discussionmentioning

confidence: 99%

Incontinentia pigmenti with intracranial arachnoid cyst: A case report

Li¹,

Li²,

Ding³

et al. 2022

WJCC

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BACKGROUND Incontinentia pigmenti (IP) is a rare X-linked dominant genetic disorder that can be fatal in male infants. It is a disease that affects many systems of the human body. In addition to characteristic skin changes, patients may also have pathological features of the eyes, teeth, and central nervous system. Therefore, the lesions in these systems may be the first symptoms for which patients seek treatment. To date, no cases of IP complicated by intracranial arachnoid cyst (IAC) have been reported. This paper aims to report a case of IP with IAC in order to share the diagnosis and treatment experience of this rare case with other clinicians. CASE SUMMARY An 11-year-old female patient suffered intermittent limb convulsions for five months and was sent to hospital. In the initial stage, the patient was considered to have primary epilepsy. Further investigation of the patient's medical history, physical examination and imaging examination led to the diagnosis of IP combined with intracranial space-occupying lesions, and secondary epilepsy. The patient was treated with craniotomy, and postoperative pathology revealed an IAC. The patient recovered well after craniotomy and had no obvious surgery-related complications. During the follow-up period, the patient did not have recurrent epilepsy symptoms. CONCLUSION IP is a multi-system disease that presents with typical skin lesions at birth, but the long-term prognosis of this disease depends on the involvement of systems other than the skin, especially nervous system and ocular lesions.

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Section: Discussionmentioning

confidence: 99%

Incontinentia pigmenti with intracranial arachnoid cyst: A case report

Li¹,

Li²,

Ding³

et al. 2022

WJCC

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“…The IKBKG is located on chromosome Xq28 and encodes the NEMO which is known as NEMO. 6 NEMO functions as a negative regulator of the NF-kB pathway and a recruiter of catalytic subunits of the IKK complex. 7 NEMO mutations result in variable immune dysregulatory phenotypes.…”

Section: Discussionmentioning

confidence: 99%

NEMO-NDAS: A Panniculitis in the Young Representing an Autoinflammatory Disorder in Disguise

Hegazy

Marques

Canna

et al. 2022

The American Journal of Dermatopathology

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:A 15-month-old full-term boy of African descent with an asymptomatic sickle cell trait presented with episodes of transient erythematous subcutaneous nodules involving the entire body except the face, since 2 weeks of age. The skin lesions evolved to areas of lipoatrophy and hyperpigmentation. An initial skin biopsy, studied at a different department at 2 months, was initially misinterpreted as subcutaneous fat necrosis of the newborn, despite the lack of the typical radiated crystals and needle-shaped clefts characterizing that entity. At 4 months of age, he developed systemic inflammatory manifestations, including fever, a new rash, significant periorbital edema, and failure to thrive. An extensive workup showed leukocytosis, hypercalcemia, elevated inflammatory markers, hypertriglyceridemia, and transaminitis. A new skin biopsy of the eyelid was diagnosed as neutrophilic lobular panniculitis with necrotic adipocytes. An initial whole-exome sequencing did not identify any causative mutations, but a WES reanalysis focused on autoinflammatory disorders was requested based on additional clinicopathologic data and revealed a mosaic intronic mutation in IKBKG c. 671+3 G > C. This mutation encodes an mRNA missing exon 5 resulting in NF-kB essential modulator (NEMO) Δ-exon 5–autoinflammatory syndrome (NDAS). NEMO-NDAS is one of the systemic autoinflammatory diseases that may appear as an unexplained panniculitis in young children, who should be monitored for immunodeficiency and/or autoinflammatory diseases. The differential diagnosis of autoinflammatory disorders should be considered in such cases incorporating the use of the whole-genome/exome sequencing in the investigation. The inhibitor of kappa-B kinase regulatory subunit gamma (IKBKG) is located on chromosome Xq28 and encodes the NEMO, a critical molecule upstream of NF-kB activation.

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“…Extracutaneous manifestations are common, observed in up to 80% of IP cases. These can include: 25 , 26 , 27 , 30 , 31 , 32 …”

Section: Introductionmentioning

confidence: 99%