P017 Like mother, like daughter: familial central centrifugal cicatricial alopecia supporting genetic susceptibility

Abstract

Central centrifugal cicatricial alopecia (CCCA) is an uncommon primary scarring alopecia most often seen in women of African ancestry. Its pathophysiology is not fully understood but it is thought to be influenced by a combination of factors, including hair-grooming practices, structural fragility of tightly coiled hair, and emerging evidence of genetic susceptibility. Familial cases are rarely encountered in routine clinical practice. We report a mother–daughter presentation managed within the same specialist clinic, highlighting a rare opportunity to examine clinicopathological concordance and explore potential genetic susceptibility described in PADI3 variants. Clinical records and available scalp biopsy specimens from two first-degree relatives presenting with scarring alopecia were reviewed. Histological material was re-examined by a dermato­pathologist with attention to features distinguishing CCCA from other lymphocytic scarring alopecias. Relevant literature describing monoallelic PADI3 variants in CCCA was reviewed, and options for genetic testing of both patients are currently being explored. Maternal biopsies demonstrated a lymphocytic scarring alopecia with upper follicular segment perifollicular lymphocytic inflammation and concentric fibrosis. Importantly, premature desquamation of the inner root sheath (PDIRS) was identified in both specimens, a feature supportive of CCCA. While significant histological overlap exists between lichen planopilaris and CCCA, the presence of PDIRS in conjunction with clinical features favoured a diagnosis of CCCA. The daughter demonstrated a phenotype that was clinically and histologically consistent with CCCA. In light of this rare familial presentation and published evidence supporting a genetic contribution to CCCA, options for genetic testing of both patients are being actively explored. This mother–daughter presentation of CCCA supports a potential inherited susceptibility in this under-researched condition. In the context of emerging evidence implicating monoallelic PADI3 variants in CCCA, this familial presentation provides a valuable opportunity to explore potential genetic contributions, with implications for disease understanding, counselling and future research.