Lichenoid folliculitis of the scalp in four patients with ichthyosiform skin disorders and cicatricial alopecia

Abstract

Ichthyosis is a heterogeneous group of inherited skin disorders characterized by a defect of keratinization. Patients diagnosed with lamellar ichthyosis (LI) and some ichthyosiform syndromes, such as the Conradi-Hünermann-Happle syndrome (CHHS), usually present with hair loss. Even though only few dermatologic complaints carry as many emotional overtones as hair loss, there are very few data available in the literature regarding scalp histopathological features in ichthyosis. A better understanding of scalp changes in such context may result in new therapeutic strategies that in turn would enhance patients' self-esteem and quality of life. The aim of this paper is to describe the scalp histopathological findings of four young patients with cicatricial alopecia: three diagnosed as having LI and the fourth with CHHS. K E Y W O R D S alopecia, dermatopathology, hair follicle 1 | INTRODUCTION Ichthyosis is a heterogeneous group of inherited skin disorders characterized by a defect of keratinization 1-4 with an estimated incidence of 1:200000 ± 300 000. 3 Patients bearing lamellar ichthyosis (LI) and some ichthyosiform syndromes, such as the Conradi-Hünermann-Happle syndrome (CHHS), present with ichthyosiform skin lesions and also scalp involvement, sometimes manifested as unambiguous cicatricial alopecia. In fact, few dermatological complaints carry as many emotional overtones as hair loss. 5 Yet, despite the considerable psychological impairment recognized in patients suffering from ichthyosis, there are very few data available in the literature regarding scalp histopathological features. Hence, a better understanding of scalp changes may result in new therapeutic strategies that in turn would enhance patients' self-esteem and quality of life. In order to highlight histopathological findings, the authors present four cases of overt cicatricial alopecia in young females who have been followed since childhood for ichthyosiform skin changes. Three out of the four patients were diagnosed as having LI and the fourth with CHHS. 2 | CASE REPORTS 2.1 | Cases 1 and 2 Two sisters with LI complained of long-term duration of hair loss and scalp scaling. Both had been followed by a pediatric dermatologist since their childhood. On physical examination, the 15-year-old sister showed frontotemporal hair loss, a central area of patchy cicatricial alopecia and dry, brittle hair (Figure 1). The 24-year-old sister exhibited frontotemporal hairline recession and dry, brittle hair (Figure 2). Dermoscopic and histopathological features are shown in Figures 3-6 and 7.2.2 | Case 3 A 22-year-old female patient with LI complained of hair loss since her early adolescence. On physical examination, there were frontotemporal hairline recession, occipital patchy cicatricial alopecia, sparse pustules and dry, brittle hair (Figure 8). Dermoscopic and histopathological features are shown in Figures 9-10 and 11.

Conradi‐Hünermann‐Happle syndrome: Clinical and trichoscopic findings

“…A histological study of the scalp in another case of CHH 11 revealed pseudopelade with fibrous cords reaching the epidermis, orphaned hair muscles, and lack of normal hair follicles. On the trichoscopic examination, reports have described hair shafts that may be uneven in diameter, loss of follicular openings, peripilar casts, polytrichia, fractured hair, transparent proximal hair shaft emergences, trichorrhexis nodosa, pili torti, anisotrichia, broken hair, and inter and perifollicular desquamation 17 . Several of these findings correlate with trichoscopic features of cicatricial alopecia.…”

Chronic Ulceration of the Scalp Associated with Genetically Different Types of Congenital Ichthyosis: A Series of Four Cases

“…These ulcerations may be linked to skin barrier anomalies responsible for abnormal inflammatory processes and disturbed microflora. Gene mutations may also be responsible for the selective expression of antigenic proteins by hair follicles ( 3 ). Other contributory factors cannot be ruled out: repeated trauma/maceration secondary to wearing a wig or scarf and pruritus.…”

Patients with autosomal recessive congenital ichthyosis present a distinctive pattern of alopecia

“…This stereotypical pattern seen in ARCI due to TGM1 mutations has not yet been described, even if present on a clinical photograph provided in the series by Putterman, 3 or in patients without molecular diagnosis. 4,5 The fact that only patients with variants in TGM1 or ABCA12 (along with HI) have alopecia may help for suspecting the causal gene before molecular testing and is therefore relevant for prognosis. We cannot exclude the fact that some patients had additional mutations in genes associated with hair loss (such as ST14), thus representing a limitation of our study.…”

“…Regarding pathophysiology, skin inflammation, together with a disturbed intrafollicular microflora, could contribute to this ARCI-related alopecia. 5 A bigger prospective study, combining clinical data, genomics, proteomics and microbiome would better explain this scaring alopecia and help to identify new therapeutical approaches, ideally at early stages, to prevent irreversible lesions.…”