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KID Syndrome

Ichthyosiform Erythroderma Corneal Involvement and Deafness


Presentation

  • Cutaneous changes and hearing loss typically present in early childhood, whereas ocular symptoms present later.[ncbi.nlm.nih.gov]
  • Surgical intervention and postsurgical rehabilitation may be indicated for children who present with toe walking attributed to contracture in the Achilles tendon.[ncbi.nlm.nih.gov]
  • We present a case occurring in a 48-year-old woman where improvement in the ichthyosiform dermatosis, stabilization of her ocular disease, and apparent partial prevention of further cutaneous malignancies occurred in association with ketoconazole therapy[ncbi.nlm.nih.gov]
  • We report a 17-year-old girl who presented with universally ichthyotic red hue on the face, trunk, and extremities along with deafness and keratitis since childhood. She was diagnosed with KID syndrome.[ncbi.nlm.nih.gov]
  • However, the severity of infections and multiplicity of organisms observed in this syndrome suggest that a primary immunodeficiency is present in addition to an impaired cutaneous barrier to microorganisms.[ncbi.nlm.nih.gov]
Short Stature
  • The proposita was similar to the latter patients in having progressive cirrhosis necessitating liver transplantation; she also had short stature (10/35 patients) and mental retardation (3/35).[ncbi.nlm.nih.gov]
  • Short stature and mental retardation have also been noted. The hearing loss is neurosensory in type. Epidermal glycogen deposition has been found in one patient with the presumed recessive disorder.[disorders.eyes.arizona.edu]
  • It’s the extra chromosome that can cause certain physical characteristics (such as short stature and an upward slant to the eyes) and speech and developmental delays.[kids.nationalgeographic.com]
  • Some of these problems may include: obsessive and compulsive behaviours, such as picking at the skin eye problems, such as short-sightedness short stature, often due to growth hormone deficiency delayed onset of puberty scoliosis (sideways curves in the[betterhealth.vic.gov.au]
Wound Infection
  • Following an immediate minor wound infection, implantation has been successful without further complication over 4 years.[ncbi.nlm.nih.gov]
Plethora
  • Then, after entering an all-girls high school, I was surrounded by a plethora of exceedingly intelligent women. Suddenly, your intelligence seems inferior to everyone around you.[theodysseyonline.com]
Skin Lesion
  • The autosomic dominant KID Syndrome (MIM 148210), due to mutations in GJB2 (connexin 26, Cx26), is an ectodermal dysplasia with erythematous scaly skin lesions, keratitis and severe bilateral sensorineural deafness.[ncbi.nlm.nih.gov]
  • KID syndrome (MIM 148210) is an ectodermal dysplasia characterized by the occurrence of localized erythematous scaly skin lesions, keratitis and severe bilateral sensorineural deafness.[ncbi.nlm.nih.gov]
  • All had characteristic hyperkeratotic skin lesions and neurosensory hearing defects. Two had ophthalmologic symptoms. The third patient did not have eye involvement at the age of 3 years, but exhibited the other typical signs of the syndrome.[ncbi.nlm.nih.gov]
  • A rare form of the KID syndrome is a fatal course in the first year of life due to severe skin lesion infections and septicaemia. KID appears to be genetically heterogeneous and may be caused by mutations in connexin 26 or connexin 30 genes.[ncbi.nlm.nih.gov]
  • Keratitis-ichthyosis-deafness (KID) syndrome is a rare congenital ectodermal dysplasia characterized by the association of hyperkeratotic skin lesions, moderate to profound sensorineural hearing loss and vascularizing keratitis.[ncbi.nlm.nih.gov]

Workup

  • Clinical Testing and Workup In the past, a specific chromosomal study known as G-band analysis, which demonstrates missing (deleted) material on chromosome 17p, was used to help obtain a diagnosis of SMS.[rarediseases.org]

Treatment

  • The patient had significant improvement of the hyperkeratosis on the scalp, trunk, and extremities within 4 weeks after initiating treatment.[ncbi.nlm.nih.gov]
  • Treatment with acitretin cleared the hyperkeratotic ichthyotic lesions with little effect on the cornea or hearing. Acitretin seems to be a promising new treatment in KID syndrome.[ncbi.nlm.nih.gov]
  • Both displayed unusual clinical features and responded well to long-term treatment with oral retinoid.[ncbi.nlm.nih.gov]
  • Treatment with the aromatic retinoid etretinate proved to be of little value in any of the patients.[ncbi.nlm.nih.gov]
  • DISCUSSION Due to its congenital character, treatment of KID syndrome is very difficult and only supportive. Unfortunately, due to it’s severity, skin changes are very resistant to the topical treatment with keratolytic preparations.[odermatol.com]

Prognosis

  • Based on our findings, we believe that cancer surveillance in patients with KID syndrome should include screening for pilar tumors and their early removal to avoid development of malignant proliferating pilar tumors with poor prognosis.[ncbi.nlm.nih.gov]
  • While the skin symptoms and hearing loss are typically present from birth, eye problems usually begin during childhood or adolescence and worsen with time. [3] Even though the general prognosis seems good, life-long follow-up is necessary because the[rarediseases.info.nih.gov]
  • Learn more about doctor visits, therapies, equipment, prognosis and more. FIND OUT MORE What is PKS? Information for medical professionals and families.[pkskids.net]
  • The prognosis for people diagnosed with Budd-Chiari syndrome often depends on where the blockage is, and the number of veins that are blocked.[chp.edu]
  • Prognosis Because of the highly variable nature of SMS, it is impossible to generalize about prognosis for individual cases.[rarediseases.org]

Etiology

  • KID (keratitis, ichthyosis, deafness) syndrome is a congenital ectodermal defect of unknown etiology.[ncbi.nlm.nih.gov]
  • Keratitis, ichthyosis, and deafness (KID) syndrome is a rare congenital disorder of unknown etiology in which increased susceptibility to viral, bacterial, and mycotic infections has been observed.[ncbi.nlm.nih.gov]
  • This also suggests that the GJB2 gene may have a role in other cases with DWM of, as yet, unknown etiology.[ncbi.nlm.nih.gov]
  • Etiology is not known, but tic disorders tend to be familial. In some families, they appear in a dominant pattern with incomplete penetrance. Comorbidities are common.[merckmanuals.com]
  • Etiology of Down syndrome: Evidence for consistent association among altered meiotic recombination, nondisjunction, and maternal age across populations. Am J Med Genet A. 2009 Jul;149A(7):1415-20. Sherman SL, Allen EG, Bean LH, Freeman SB.[cdc.gov]

Epidemiology

  • Epidemiology of Down syndrome. Ment Retard Dev Disabil Res Rev. 2007;13(3):221-7. Adams MM, Erickson JD, Layde PM, Oakley GP. Down’s syndrome. Recent trends in the United States. JAMA. 1981 Aug 14;246(7):758-60.[cdc.gov]
  • This requires that the audiologist be familiar with the genetic epidemiology of hearing loss and resources for referral and information.[asha.org]
Sex distribution
Age distribution

Prevention

  • We present a case occurring in a 48-year-old woman where improvement in the ichthyosiform dermatosis, stabilization of her ocular disease, and apparent partial prevention of further cutaneous malignancies occurred in association with ketoconazole therapy[ncbi.nlm.nih.gov]
  • All 5 subjects had a history of non-erosive keratosis obturans and cutaneous cysts in the external ear canals that prevented continuous use of ear molds. The sensorineural hearing loss in KID syndrome is generally prelingual and profound.[ncbi.nlm.nih.gov]
  • If you give it to kids in the milk, it will prevent the milk from forming a curd in the kid’s stomach and the milk will go straight through the intestines.[salecreek.vet]
  • A common point between these causes lies in the fact that they’re all associated with parents, so it is our responsibility to take preventive measures and avoid this.[joya.life]
  • Ensure there is good communication between home and school to prevent any missed assignments, papers to be signed, etc.[ldawe.org]

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