Linear and whorled nevoid hypermelanosis associated with developmental delay and generalized convulsions

Abstract

A 2‐year‐old Saudi boy was seen in our dermatology clinic with symmetrical, brown, linear macules over the legs, trunk, and arms (Figs 1–3). He was a product of a full‐term vaginal delivery following an uneventful first pregnancy in a 22‐year‐old mother. The birth weight was 2.3 kg. The hyperpigmented macules followed the lines of Blaschko and were noticed a few months after birth; they had enlarged with body growth until the age of 18 months. There was no family history of a similar condition and the boy's parents were unrelated. No blistering or inflammatory changes preceded the hyperpigmentation. The palms, soles, nails, scalp, mucous membranes, and teeth were normal. In addition to the hyperpigmented macules, the patient started to have generalized convulsions at the age of 2 months. 1 Linear hyperpigmented macules following the lines of Blaschko 2 Close up view of the hyperpigmented macules 3 Trunk: Hyperpigmented macules in whorled distribution Physical examination revealed delayed developmental milestones, microphthalmia, depressed nose, and high arched palate with no other abnormalities. Blood tests were normal. Magnetic resonance imaging of the brain showed changes suggestive of a demyelinating process at the parieto‐occipital white matter. Echocardiography revealed an atrial septal defect. Electroretinography (ERG), visual evoked potentials (VEP), and auditory evoked potentials (AEP) were normal. Electroencephalogram (EEG) showed multifocal epileptic discharge in the posterior region. A punch skin biopsy taken from the hyperpigmented lesions showed an increase in the melanin content of the basal layer with no incontinence of pigment or melanophages in the dermis.

Linear and whorled nevoid hypermelanosis with hyper IgE syndrome

“…Skin changes are usually one-sided, and eruptions occupy the trunk [25]. In our patient, clinical, dermoscopic and histopathological examination showed characteristic features for LWNH, in line with other reported cases [1][2][3][4][5][6][7][8][9][10][11][12][13][14][15][16]27]. Treatment of LWNH does not give satisfactory results.…”

“…Histopathologically it shows only epidermal melanosis [1,[5][6][7]. Linear and whorled nevoid hypermelanosis may be associated with congenital defects relating to the nervous, cardiovascular and skeletal systems and ocular anomalies [8][9][10][11][12]. The coexistence of hemiatrophy, Axenfeld-Rieger syndrome, inflammatory linear verrucous epidermal nevus (ILVEN), ichthyosis vulgaris and cerebrovascular malformations is also described [13][14][15][16].…”

“…Hong et al [20] described inversion of chromosome 9 corresponding with LWNH. Furthermore there are also described cases of the occurrence of LWNH inherited in subsequent generations [5][6][7][8][9][10][11][12][13][14][15][16][17][18][19][20][21]. The differential diagnosis includes incontinentia pigmenti, epidermal nevi, hypomelanosis of Ito, Goltz syndrome and Moulin syndrome [22][23][24][25][26].…”

Linear and Whorled Nevoid Hypermelanosis and Axenfeld-Rieger Anomaly: A Novel Association

“…This is thought to refiect an underlying mosaicism or chimerism, and several cytogenetic alterations have been described. Occasionally, it is associated with systemic abnormalities, including developtnental and growth retardation, facial and body asymmetry, and cardiac defects (2,3). Histology shows hyperpigmentation of the basal epidermal layer and prominent melanocytes, without pigment incontinence.…”

Mosaicism in cutaneous pigmentation

“…The pigmentation may expand for 1 or 2 years, but it stabilizes thereafter and may become less prominent in time. There have been reports of LWNH in association with central nervous sytem abnormalities and chromosomal mosaicism [33,37,38]. We prefer, however, to categorize these as HI, rather than LWNH, and reserve the term LWNH for individuals who are otherwise normal.…”