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.