Keratitis–Ichthyosis–Deafness: A Rare Kid in Clinical Practice : Indian Journal of Paediatric Dermatology

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A Rare Kid in Clinical Practice

Shah, Shikha R.; Karia, Umesh K.; Shah, Bela J.; Vyas, Harshita Ravindra

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Indian Journal of Paediatric Dermatology 23(3):p 251-253, Jul–Sep 2022. | DOI: 10.4103/ijpd.ijpd_31_22
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Keratitis–ichthyosis–deafness (KID) syndrome is classically characterized by a triad of erythrokeratoderma, progressive vascularizing keratitis, and sensorineural hearing impairment.[1] Most patients have heterozygous missense mutations in the GJB2 gene on chromosome 13q11-q12 encoding gap junction protein connexin-26, which perturbs calcium homeostasis and hemichannel permeability.[2] Prevalence is <1/1,000,000 with hardly 100 published cases.[3] We report this case in a 3-year-old male child.

Informant was child's father who gave a history of gradually progressive skin lesions for the past 2 years with intolerance to sunlight and heat. The child was unable to speak or respond to sounds. There was uneventful birth history, no collodion membrane, gait, or developmental abnormalities.

On examination, there were symmetrical, well-demarcated hyperkeratotic plaques over the scalp, face, axillae, elbows, knees, and buttocks [Figures 1-3]. The keratotic plaques resulted in perioral furrowing, angular cheilitis, and hypopigmentation [Figure 1]. There was stippled grainy palmoplantar keratoderma [Figures 4 and 5]. Scalp hair was sparse and lustreless with areas of cicatricial alopecia. There was alopecia of eyebrows and eyelashes. Nail and dentition were normal. Multiple follicular prominences were seen over bilateral arms and buttocks.

Figure 1:
Hyperkeratotic plaques over face, axillae, and elbows with perioral radial furrowing
Figure 4:
Stippled palmar keratoderma
Figure 5:
Diffuse plantar keratoderma with fissuring

On pediatric evaluation, the developmental quotient was 81% with isolated delayed language milestones. Otoacoustic emissions and Brainstem Evoked Response Audiometry (BERA) revealed profound bilateral sensorineural hearing loss. Ophthalmology examination revealed severe photophobia, vascularizing keratitis in the right eye with pannus formation, and central corneal opacity in the left eye. Routine investigations were normal. Skin biopsy findings showed follicular plugging, papillomatosis, and basket-weave hyperkeratosis. Genetic testing could not be done due to resource constraints.

Based on the clinical picture, a diagnosis of KID syndrome was made. Topical emollients and keratolytics were prescribed. A cochlear implant was planned, and supportive ophthalmology and pediatric care were given.

In 1981, Skinner coined the acronym “KID” syndrome.[4] Despite this verbatim, findings represent erythrokeratoderma rather than ichthyosis. Caceres et al. proposed diagnostic criteria in 1996, which included erythrokeratoderma, neurosensory deafness, vascularizing keratitis, reticulated palmoplantar hyperkeratosis, and alopecia as major criteria; while susceptibility to infections, dental dysplasia, hypohidrosis, and growth delay as minor criteria. In our case, all major criteria were fulfilled, but no minor criteria, which may be absent and not quintessential for diagnosis.[1]

KID syndrome, inherited in an autosomal dominant or sporadic manner, represents an overlap between disorders of cornification and ectodermal dysplasia. There is increased susceptibility to infections, benign and malignant neoplasms, particularly trichilemmal tumors and squamous cell carcinoma. Congenital, nonprogressing sensorineural hearing impairment is present in almost all patients. Vascularizing keratitis and conjunctivitis worsen with age, and scarring and neovascularization may eventuate in blindness. Dental abnormalities, Dandy–Walker malformation, short heel cords, facial dysmorphism, and other developmental abnormalities have also been reported.[5] Differentials such as other erythrokeratodermas and keratosis follicularis spinulosa decalvans lack the classical triad of cutaneous lesions, keratitis, and deafness. Other possibilities that were considered in our case and how they were ruled out are depicted in Table 1.

Table 1:
Other differential diagnoses considered, along with features that supported and went against the diagnosis in our case

Lifelong surveillance and multidisciplinary approach are often necessary. Topical emollients, keratolytics, and oral retinoids have been used with variable results.[5] Corneal transplants have limited efficacy because of revascularization. Hearing aids and cochlear implants may successfully improve hearing loss.

Declaration of consent

The authors certify that they have obtained all appropriate consent forms, duly signed by the parent(s)/guardian(s) of the patient. In the form, the parent(s)/guardian(s) has/have given his/her/their consent for the images and other clinical information of their child to be reported in the journal. The parents understand that the names and initials of their child/children will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

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Conflicts of interest

There are no conflicts of interest.


1. Caceres-Rios H, Tamayo-Sanchez L, Duran-Mckinster C, de la Luz Orozco M, Ruiz-Maldonado R. Keratitis, ichthyosis, and deafness (KID syndrome): Review of the literature and proposal of a new terminology Pediatr Dermatol. 1996;13:105–13
2. Richard G, Rouan F, Willoughby CE, Brown N, Chung P, Ryynänen M, et al Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome Am J Hum Genet. 2002;70:1341–8
3. Dey VK, Saxena A, Parikh S. KID syndrome: A rare genodermatosis Indian Dermatol Online J. 2020;11:116–8
4. Skinner BA, Greist MC, Norins AL. The keratitis, ichthyosis, and deafness (KID) syndrome Arch Dermatol. 1981;117:285–9
5. Shanker V, Gupta M, Prashar A. Keratitis-Ichthyosis-Deafness syndrome: A rare congenital disorder Indian Dermatol Online J. 2012;3:48–50
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