Table I.

Associated features of keratitis-ichthyosis-deafness and hidradenitis suppurativa in literature

Reference	KID-cutaneous features	KID-systemic features	HS	Additional features of follicular occlusion and skin disease	Genetic mutation
Current case	Dystrophic nails, follicular hyperkeratosis	Congenital sensorineural hearing loss	Axillary—Hurley Stage III	Severe cicatricial cystic acne, pilonidal cyst, recurrent abscess on posterior neck, keratosis pilaris, acanthosis nigricans, severe atopic dermatitis	Heterozygous missense mutation, 32 G to A transition of exon 2 on GJB2 gene
Bettoli et al11	Palmoplantar keratoderma, widespread scales, fingernail and toenail dystrophy, hyperkeratotic plaque of the scalp	Congenital sensorineural bilateral hearing loss	Recurrent inguinal abscesses starting in adolescence, at age 39 developed nodules, abscesses, and fistulas in genital and groin areas	None	D50N on GJB2 gene
Maintz et al12	Ichthyosis, transgrediens palmoplantar keratoderma, fine hyperkeratosis and erythrokeratoderma of the hips and thighs, Toenail dystrophy	Congenital sensorineural deafness, vascularizing keratitis	Abscesses in axillae and groin	Dissecting cellulitis of the scalp with cicatricial alopecia, acne conglobata	Heterozygous missense mutation D50N on GJB2 gene
Nyquist et al13	Patient 1—dry skin, palmoplantar keratoderma with 'stippled' appearance	Bilateral sensorineural hearing loss, photophobia, corneal vascularization	Groin	Dissecting cellulitis of the scalp with diffuse scarring alopecia, cystic acne, multiple epidermal cysts, moderately differentiated SCC with metastatic tumor nests in 2 inguinal lymph nodes, primary malignant proliferating pilar tumor (PPT) with metastatic spread	Heterozygous missense mutation D50N on GJB2 gene
Prasad and Bygum14	Red and dry skin since birth, red-brown hyperkeratotic plaques on face and extremities, and sparse hair	Congenital sensorineural deafness	Axillary and groin	Dissecting cellulitis of the scalp, cystic acne	Heterozygous missense mutation D50N (148 G>A) in GJB2
Montgomery et al10	Mild palmoplantar keratoderma, ichthyosis, follicular hyperkeratosis, leukonychia without nail pitting	Congenital deafness, mild keratitis, Leukonychia	Axillae, suprapubic, inguinal and intergluteal areas—interconnected draining sinuses surrounded by macerated nearly verrucous hyperkeratotic skin	Dissecting folliculitis of the scalp with extensive scarring, chronically recurrent cystic acne on face and torso starting at 5 y of age	Novel heterozygous point mutation (C119T) A40V on GJB2 gene
Lazic et al6	Palmoplantar keratoderma, 20-nail dystrophy, gingival swelling, hyperemia and chronic lip fissuring, soft pedunculated papules on buccal mucosa and lateral edges of tongue	Congenital sensorineural deafness, photophobia, corneal abrasions, scarring, vascularizing keratitis, keratoconjunctivitis sicca.	Recurrent sterile abscesses with sinus tracts and scarring in the axillae, mons pubis and submammary folds.	Dissecting cellulitis of the scalp with diffuse scarring alopecia, partial eyebrow and eyelash alopecia, complete axillary and pubic alopecia, and porokeratotic eccrine ostial and dermal duct nevus (PEODDN), atopic dermatitis	G12R mutation on the GJB2 gene

HS, Hidradenitis suppurativa; KID, keratitis-ichthyosis-deafness; SCC, squamous cell carcinoma. Adapted from Bettoli et al (2021). KID and HS association features in the literature. Skin Appendage Disord. https://doi.org/10.1159/000509042.