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. 2023 Jun 15;38:158–162. doi: 10.1016/j.jdcr.2023.06.003

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.