Atrichia with Papular Lesions: Dermoscopy to the Rescue
Year: 2024
Type: article
Study design: Case Report
Abstract: Atrichia with papular lesions (APL) is a rare autosomal recessive (AR) follicular disorder caused by a mutation of the hairless (HR) gene.[1] The child is born with normal hair, but progressive hair loss is usually complete within the first few months of life, never to grow back. Here, we present a case of a 3-year-old boy presenting with alopecia universalis with papular lesions, where dermoscopy helped in clinching the diagnosis. A 3-year-old boy presented to the outpatient department with complete loss of hair on the scalp and body since the age of 1 year. The child was born with scanty hair at birth, but the hair was lost progressively. The child also developed multiple skin-colored lesions on the scalp and body from the age of 1 year, which gradually increased in number. The boy’s physical and neurologic development were normal, as per his age. No history of decreased sweating, decreased hearing, seizures, or bone pains could be elicited. There was no history of consanguinity. There was no history of similar complaints in siblings or any of the family members. On examination, there was a complete absence of hair on the body and scalp. Multiple skin colored to whitish papules of size 0.2–0.5 cm were present on the entire body, most conspicuously on the scalp [Figure 1]. The rest of the cutaneous examination, including mucosae, nails, teeth, and sweat glands, was normal. He had no bony abnormalities. The rest of the systemic examination was within normal limits. The weight and height of the child were within the normal range as per age. Dermoscopy of the scalp using Dermlite 3 in the non-polarized mode revealed clusters of white dots at regular intervals across the entire scalp—the ‘cluster of stars appearance’ [Figure 2]. Hemogram along with liver and kidney function did not reveal any abnormality. X-rays of the bilateral wrists and serum calcium and vit D3 levels were normal. Based on the clinical and diagnostic dermoscopic features, a diagnosis of APL was made.Figure 1: Complete loss of hair with multiple skin colored to white pinpoint papules present on the scalpFigure 2: Dermoscopy of scalp showing clusters of white dots at regular intervals, which is described as the ‘cluster of stars’ appearance. (Dermlite 3, Non-polarized mode, 10X)APL is a rare, AR disorder characterized by the complete loss of all body hair and the development of papules over extensive areas of the body. The patients have a normal mental and physical development.[2] It is caused by nonsense mutations of the HR gene.[3] Sparse hair is present at birth, but alopecia is complete by the end of the first year of life as catagen follicles do not re-enter the anagen phase. Progressively, keratin is retained in follicular structures, resulting in cyst formations, appearing as papules. The main differential diagnosis of APL is alopecia areata (AA). Dermoscopy of APL shows clusters of white dots at regular intervals, which is described as the ‘cluster of stars’ appearance, while alopecia areata shows black dots, yellow dots, and exclamation mark hair.[4] Dermoscopy is thus a useful tool that can help us to differentiate the two diagnoses and avoid a skin biopsy, especially as this disorder presents in children, in whom biopsy poses a challenge. Here, we have described a case of APL with dermoscopic features in a 3-year-old boy. Declaration of patient consent The authors certify that they have obtained all-appropriate patient consent forms. In the form, the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published, and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed. Financial support and sponsorship Nil. Conflicts of interest There are no conflicts of interest.Supplementary Figure 1: (a) Photomicrograph shows hyperkeratotic epidermis with follicular plugging. Dilate follicular infundibula filled with keratin and absence of sebaceous glands. (H and E; 40X). (b) Photomicrograph shows a higher-power view of the deep dermis and subcutis showing the absence of normal hair shafts and inferior segments of hair follicles. (H and E; 100X)
Source: Indian Journal of Dermatology
Authors: Neha Yadav, Molisha Bhandari, Vivek Sharma
Language: English
Topic: Hair Growth and Disorders
Subfield: Urology
Field: Medicine
Domain: Health Sciences
Open Access status: diamond
OpenAlex ID: W4405379242