Alopecia patterns and mains trichoscopic findings in patients with autosomal

recessive congenital ichthyosis

Introduction: Autosomal recessive congenital ichthyosis (ARCI) is a rare genodermatosis

classified upon the non-syndromic ichthyosis. Patients with ARCI may develop alopecia with
different patterns with a significant impact on their quality of life.

Objectives: The aim of our study was to describe hair involvement during ARCI and rise
awarness among dermotologists about the importance of its evaluation.

Materials and methods: We conducted a prospective study at the dermatology department of

Habib Thameur Hospital from January 2019 to December 2021 (3 years). A total of 30
patients waere included in the study. The patients had clinical and trichoscopic examinations
of their hair. Trichocoscopic evaluation was performed using the Dermlite DL4
dermatoscope. Clinical and dermatoscopic photographs of the hair were taken.

Results: We included 30 patients in our study. The mean age was 20 years with a female
predominance (M/F= 0,58). Twenty-eight patients were born from a consanguineous
marriage. Patients suffered from lamellar ichthyosis in 22 cases, congenital ichthyosiform
erythroderma and bathing suit ichthyosis in four cases each. ARCI severity score using VIIS
scale had a mean value of 15 (4-28). Alopecia was the most relevant finding (11 patients). It
had three main aspects: hairline recession (13%) (figure 1), multiple patchy alopecia (27%)
(figure 2) and alopecia of the eyebrows (13%). The clinical examination also revealed the
presence of scales (90%) and thin and brittle hair (34%). Hair involvement was statistically
associated with the severity of the ARCI.

The main trichoscopic signs were: interfollicular and perifollicular scaling (figure 3),
perifollicular lamellar hyperkeratosis (figure 4), peripilar casts, interfollicular erythema, loss of
hair openings, predominance of single hair follicle, broken hair, vellus hair, anisotrichosis, pili
torti, dystrophic hair and comma hair. Some trichoscopic findings were statistically
associated with the severity of ARCI.

Conclusion: Hair involvement during ARCI is not a rare finding. Patients can suffer from dry,
brittle hair and scaling but scarring alopecia is the most described abnormality with a
significant association with the severity of ARCI. It can present as alopecic patches, alopecia
of the eyebrows or receding hairline. Trichoscopic features are polymorphous and may
reflect the severity of the disease. Hence, physician must grant more importance to this
specific aspect of ARCI.
Title:

Alopecia Patterns and Trichoscopic Findings in Autosomal Recessive Congenital Ichthyosis

Patients

Introduction:

Autosomal recessive congenital ichthyosis (ARCI) is a rare non-syndromic genodermatosis

characterized by severe skin scaling. Hair involvement in ARCI, including alopecia, can
significantly impact patients' quality of life.

Objectives:

This study aims to provide a comprehensive description of hair involvement in ARCI and to
raise awareness among dermatologists regarding the importance of evaluating hair-related
issues in these patients.

Materials and Methods:

A prospective study was conducted at the Dermatology Department of Habib Thameur

Hospital from January 2019 to December 2021, spanning three years. A total of 30 ARCI
patients were enrolled and underwent clinical and trichoscopic examinations using the
Dermlite DL4 dermatoscope. Photographic documentation of hair conditions was also
undertaken.

Results:

In the study cohort (mean age: 20 years, female predominance M/F= 0.58), 28 patients were
born to consanguineous parents. Lamellar ichthyosis was diagnosed in 22 cases, with
congenital ichthyosiform erythroderma and bathing suit ichthyosis observed in four cases
each. The mean ARCI severity score using the VIIS scale was 15 (ranging from 4 to 28).

Alopecia was the most prominent finding (11 patients), manifesting as hairline recession
(13%) (figure 1), multiple patchy alopecia (27%) (figure 2), and alopecia of the eyebrows
(13%). Clinical examination also revealed scales in 90% of patients and thin, brittle hair in
34%. Hair involvement was statistically associated with the severity of ARCI.

The main trichoscopic signs included interfollicular and perifollicular scaling (figure 3) ,
perifollicular lamellar hyperkeratosis(figure 4), peripilar casts, interfollicular erythema, loss of
hair openings, predominance of single hair follicles, broken hair, vellus hair, anisotrichosis,
pili torti, dystrophic hair, and comma hair. Several trichoscopic findings were statistically
correlated with ARCI severity.
Conclusion:

Hair involvement in ARCI is a common occurrence, often presenting as scarring alopecia

with various manifestations such as alopecic patches, eyebrow alopecia, and receding
hairlines. These hair-related issues are significantly associated with the severity of ARCI.
Trichoscopic features exhibit considerable diversity and may serve as potential indicators of
disease severity. Dermatologists should prioritize the evaluation of hair involvement in ARCI
patients for comprehensive care and management.