Linear and whorled nevoid hypermelanosis with hyper IgE syndrome

Introduction

Linear and whorled nevoid hypermelanosis (LWNH) is a pigmentation disorder characterized by macular hyperpigmentation following the lines of Blaschko. It was first reported by Kalter et al. in 1988 [1]. Only 50 cases of LWNH have been described so far, particularly in individuals with high skin phototype. The first skin lesions appear in infancy, usually in the first weeks of life, and gradually worsen. Pigmentations are not preceded by any other skin changes. Stabilization of skin lesions usually occurs after 2–3 years [1–4]. Histopathologically it shows only epidermal melanosis [1, 5–7]. Linear and whorled nevoid hypermelanosis may be associated with congenital defects relating to the nervous, cardiovascular and skeletal systems and ocular anomalies [8–12]. The coexistence of hemiatrophy, Axenfeld-Rieger syndrome, inflammatory linear verrucous epidermal nevus (ILVEN), ichthyosis vulgaris and cerebrovascular malformations is also described [13–16].
Underlying chromosomal mosaicism has been demonstrated in only a few published cases (mosaic trisomy 7, 18 or 20) [17–19]. 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 [5–21]. The differential diagnosis includes incontinentia pigmenti, epidermal nevi, hypomelanosis of Ito, Goltz syndrome and Moulin syndrome [22–26]. Diagnosis is based on characteristic clinical and histopathological examination. Dermoscopy shows linear or circular streak-like pigmentations arranged in a parallel manner [27]. However, the rare occurrence of the entity causes diagnostic problems.

Objective

We present a case of LWNH, which, according to our knowledge, is the first case reported in Polish literature.

Case report

We present a case of a 29-year-old Caucasian woman with second skin phototype with progressively increasing streaks of reticulate hyperpigmented macules. The lesions were arranged in a whorled pattern over the trunk and extremities and appeared in the first years of life (Fig. 1 A, B). There was no history of any preceding bullous or verrucous eruption. She was treated in the otolaryngology department due to frequent bacterial and fungal infection of the upper respiratory tract. Moreover, dental defects and aphthae in the oral cavity were observed (Fig. 2). Dermoscopy examination showed linear streak-like pigmentations arranged in a parallel manner (Fig. 3). Histopathological examination of skin lesions revealed hyperpigmentation of the epidermal basal layer and prominent melanocytes, without pigment incontinence. Based on clinical and histopathological findings the diagnosis of LWNH was established. In addition, laboratory tests showed a high level of IgE (2882 kU/l) and defects of innate and acquired immunity. The diagnosis of hyper IgE syndrome was confirmed.

Discussion

We present this case because LWNH is a very rare entity especially among fair skinned subjects. So far only a few cases of the disease have been published. In reported cases association of LWNH with many congenital defects was observed, and in our case LWNH coexisted with immunological defects and hyper IgE syndrome [28]. In the differential diagnosis incontinentia pigmenti, epidermal nevi, hypomelanosis of Ito, Goltz syndrome and
Moulin syndrome have to be considered [24–26, 29]. In hypomelanosis of Ito the skin symptoms are associated with malformations of the skeletal system, central nervous system, teeth and hair. A significant percentage of patients have epilepsy, and often mental disorders are found [23]. The skin lesions in incontinentia pigmenti appear after birth, are diverse, and the disease is characterized by successive phases. Initially there appear erythema and blisters, which are converted to verrucous lesions. The next phase is characterized by formation of foci of hyperpigmentations and hypopigmentations. The disease is linked to chromosome X, usually lethal to the male [22]. In the case of epidermal nevus skin lesions are usually congenital. Initially there appear outbreaks of hyperpigmentation, which later take the verrucous form. Most lesions are linear and do not exceed the central line of the body [24]. In Goltz syndrome, pigmentations are accompanied by other skin changes such as: verrucous papillomas, alopecia, abnormal nail structure, hyperhidrosis, and hyperkeratosis of hands and feet. Comorbidities involved are serious [26]. Moulin syndrome is characterized by the presence of soft linear atrophic, hyperpigmented lesions. 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 [1–16, 27]. Treatment of LWNH does not give satisfactory results. Therapeutic options are limited. The therapy uses chemical peels and 2% hydroquinone [30]. One case was treated with a medium-depth chemical peel regimen using 70% glycolic acid and 35% trichloroacetic acid with no benefit [7]. Our patient did not give informed consent for any topical treatment of her skin lesions.

Conclusions

In the literature there has not been described coexistence of LWNH with hyper IgE syndrome. Since LWNH is often associated with the presence of genetic defects and malformations, the most challenging is the diagnosis and treatment of comorbidities; otherwise it may cause a serious threat to the patient’s health. According to our knowledge, the presented case is the first case of LWNH in Poland.

Acknowledgments

The study was funded by the Medical University of Lodz, project no. 503/1-152-01/503-01.

References

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Received: 4 XI 2014 r.
Accepted: 11 XII 2014 r.