Incontinentia pigmenti with intracranial arachnoid cyst: A case report

Abstract

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.

Incontinentia Pigmenti: A Case Report of Early Clinical Symptoms in a Lack of Family Inheritance Positive Result

“…These are the main criteria for diagnosis for traditional IP. 4 , 6 , 7 Therefore, characteristic skin changes are the main clinical manifestations of this disease. The typical clinical manifestations of the skin are divided into four periods.…”

“…The first period is usually between birth and 2 weeks, is also known as lupus erythematosus blister. 4 , 6–8 These blisters are usually characterized by pimples, erythema, blisters, rash along the inside of the limbs and the trunk with a linear lateral distribution. 4 , 7 The blister fluid contains no bacteria, but it does contain eosinophils in large numbers.…”

“… 4 , 6–8 These blisters are usually characterized by pimples, erythema, blisters, rash along the inside of the limbs and the trunk with a linear lateral distribution. 4 , 7 The blister fluid contains no bacteria, but it does contain eosinophils in large numbers. Skin histopathological findings suggest typical eosinophilic sponge edema.…”

“… 6 , 7 The second stage involves verrucous keratosis papules and plaques, which are distributed on the extremities and appear after 2–6 weeks of birth. 4 , 6 , 7 The third stage involves pigmentation, which is distributed in stripes or vortices along the Blaschko line on the trunk at 12 to 26 weeks of birth. 4 , 6 , 7 The fourth stage of pale atrophic plaques or hypopigmentation can occur at any stage from early adolescence to adulthood.…”

“… 1–3 The typical clinical manifestations of the skin are divided into four periods, erythema and blisters, verrucous keratotic papules, plaques, pigmentation (Blaschko lines). 4 , 5 However, in some occult cases, the skin symptoms are not obvious, and the genetic test results of the parents are not necessarily positive. Only suggestive tests, such as retinal examination and cranial magnetic resonance, can be used.…”