Dermatology Online Journal

KID syndrome
Ali Abdollahi MD¹, Zahra Hallaji MD², Nafiseh Esmaili MD², Mahin Valikhani MD², Masoumeh Barzegari MD², Maryam Akhyani MD², Siavash Toosi MD², Alireza Miresmaili MD²
Dermatology Online Journal 13 (4): 11

1. Department of Ophthalmology, Farabi Hospital, Tehran University of Medical Sciences
2. Department of Dermatology, Razi Hospital, Tehran University of Medical Sciences

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Abstract

KID syndrome is a rare congenital disorder characterized by keratitis, ichthyosis, and deafness. We have described a 4-year-old girl who is treated with bland emollients and topical keratolytics such as urea and surprisingly observed marked improvement in skin hyperkeratosis and palmoplantar keratoderma. We think that along with urgent ophthalmologic and otolaryngologic measures, simple topical therapies may improve skin condition in KID syndrome precluding the possible hazards of systemic retinoid therapy.

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Clinical synopsis

Figure 1
Figure 1. A 4-year-old girl with KID syndrome

Our patient is a 4-year-old Iranian girl, born of consanguineous parents, who presented with generalized erythrokeratoderma (Fig. 1). She had erythroderma and hyperkeratosis since birth but no apparent history compatible with collodion baby. The pregnancy and delivery were uncomplicated.

On examination she had linear and spiny hyperkeratotic lesions around the flexural areas (Figs. 2 and 3). There was a hyperkeratotic brown-colored plaque on the center of the face (Fig. 4) and keratoderma of palms and soles (Fig. 5). She also had radiating rugae around the mouth, hypotrichosis of the eyelashes and eyebrows, and sparse scalp hair.

Figure 2	Figure 3
Linear and spiny hyperkeratotic lesions in axilla (Figure 2) and popliteal fossae (Figure 3)

Figure 4	Figure 5
Figure 4. Central facial brown hyperkeratotic brown plaque, and hypotrichosis of the eyelashes and eyebrows Figure 5. Keratoderma of palms

Ophthalmological examination showed neo-vascularizing keratitis. Her visual acuity was limited to no more than light perception. Otolaryngologic examination revealed complete bilateral neurosensory deafness. Additional clinical features included premature tooth caries and short stature. Her intelligence quotient was estimated to be in normal range.

Because systemic retinoids may worsen keratitis in these patients, we limited treatment to bland emollients and topical keratolytics (10% urea in Eucerin™ for trunk and limbs and 5% urea in Eucerin™ for her face). We observed marked improvement in skin hyperkeratosis and palmoplantar keratoderma after 2 weeks of this therapy.

Discussion

KID syndrome is a rare congenital disorder characterized by keratitis (with progressive corneal opacification), ichthyosis, and neurosensory deafness [1]. Most cases have been sporadic but autosomal recessive and dominant cases are reported [2]. This syndrome predisposes patients to squamous cell carcinoma and increased incidence of bacterial, viral, and fungal infections. The syndrome is attributed to missense mutations in the connexin-26 gene, GJB2. Skin changes usually develop within the first 3 months of life, and are not typical of classic ichthyosis but rather have features of erythrokeratoderma. The erythematous, nonscaling, verrucous plaques are characteristically located on the forehead, cheeks, perioral area, elbows, knees, and scalp [3].

This disease usually appears in neonates as generalized erythema, sometimes with diffuse scaling and leathery skin. Typical skin changes gradually develop during infancy and include linear and spiny hyperkeratosis of the flexures, and ichthyosis-hystrix-like scaling on the limbs [4]. Scattered follicular hyperkeratosis appears on the trunk. A typical feature is the evolution of fixed, orange, symmetrical, well-demarcated, hyperkeratotic plaques on the scalp, ears and face. Some patients develop thick perioral rugae and an aged or leonine appearance of the face [5]. Other features include palmoplantar hyperkeratosis, nail dystrophy, and alopecia (ranging from sparse hair to alopecia totalis) [6]. About half of the patients have sparse scalp hair and sparse or often absent eyebrows and eyelashes [7]. Hearing loss, mainly neurosensory, is always present, with variable degrees of compromise. It is congenital but usually detected during infancy or early childhood, and has almost always developed by age 7 years. Because of neurosensory deafness, speech development is usually delayed [4]. The ocular manifestations usually are progressive and develop during childhood or early adolescence. Delayed development of the eye manifestations should not preclude an early diagnosis of the syndrome [8]. Corneal vascularization, which is bilateral but asymmetrical, is very frequent (over 80% of cases). Recurring corneal erosions are also frequent, as well as corneal leucomae, meibomitis, and severe dry eye syndrome [9].

Although systemic retinoids have been used in several patients with variable success, to date there is no consensus on their benefits in KID syndrome. Isotretinoin has aggravated keratitis in one patient. We think that, along with urgent ophthalmologic and otolaryngologic measures, simple topical therapies may improve skin condition in KID syndrome precluding the possible hazards of systemic therapy.

References

1. Skinner BA, Greist MC, Norins AL. The keratitis, ichthyosis and deafness (KID) syndrome. Arch Dermatol 1981; 117:285-9.

2.Grob JJ, Breton A, Bonafe JL et al. Keratitis, ichthyosis and deafness (KID) syndrome: vertical transmission and death from multiple squamous cell carcinomas. Arch Dermatol 1987;123:777-82.

3. Caceres-Rios H, Tamayo-Sanchez L, Ruiz-Maldonado R. Keratitis, ichthyosis and deafness (KID syndrome): review of the literature and proposal of new terminology. Pediatr Dermatol 1996;13:105-113.

4. Langer K, Konrad K, Wolff K. Keratitis, ichthyosis and deafness (KID) syndrome: report of three cases and a review of the literature. Br J Dermatol 1990; 122: 689-97.

5. Rycroft RJG, Moynahan EJ, Wells RS. Atypical ichthyosiform erythroderma, deafness and keratitis: a report of two cases. Br J Dermatol 1976; 94: 211-17.

6. Wilson GH, Squires RH, Weinberg AG. Keratitis, hepatitis, ichthyosis and deafness: report and review of KID syndrome. Am J Med Genet 1991;40:253-259.

7. Sinsh K. Keratitis, icthyosis and deafness (KID) syndrome. Aust. J. Dermatol. 1987; 28:38-41

8. S. Ahmadi and K. McKenna. Keratitis-ichthyosis-deafness syndrome and carotenaemia. Clinical and Experimental Dermatology 2003, 28, 394-396

9. Gomez-Faoa P et al, Patient with severe corneal disease in KID syndrome. Arch Soc ESP Oftalmol 2006; 81: 225-228

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