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2.1
Autosomal Dominant KID Syndrome

Presentation

[…] with the skin lesions that had been present since birth. [semanticscholar.org]

The plantar and palmar surfaces presented with diffuse keratoderma having abundant and course scales [Figure 3a-c]. All the nails were yellowish and thickened with subungual hyperkeratosis. [journals.lww.com]

Infants present at birth or soon after with mild diffuse erythema and fine scale (often diagnosed as ichthyosiform erythroderma). [visualdx.com]

Chromosomes, which are present in the nucleus of human cells, carry the genetic information for each individual. [rarediseases.org]

In the presumed autosomal dominant disease, growth failure, mental retardation and liver disease do not seem to be present. However, oral and skin squamous cell carcinomas, as well as malignant pilar tumors of the scalp may lead to early death. [disorders.eyes.arizona.edu]

Ears

  • Hearing Impairment

    Sensorineural deafness or severe hearing impairment is often congenital. Corneal epithelium may be affected, manifesting as keratitis and photophobia. KID/HID syndrome is an autosomal dominant trait but most cases are sporadic. [genome.jp]

    Nearly all cases have skin involvement, which includes red, rough, thickened plaques that are sometimes scaling, as well as sensorineural deafness or severe hearing impairment. [rarediseases.org]

    impairment and cell death. [link.springer.com]

    Congenital sensorineural hearing loss is generally severe and bilateral. The noncutaneous features include bilateral neurosensory hearing impairment, which starts at birth; vascularizing keratitis often develops later in the course. [dermatologyadvisor.com]

Eyes

  • Blepharitis

    These include vascularizing keratitis, opacification of cornea, dry eyes, blepharitis, and conjunctivitis. [journals.lww.com]

    Eye lesions are progressive and may include blepharitis, keratoconjunctivitis sicca, corneal epithelial defects, scarring, and neovascularization, causing progressive decline of visual acuity and eventually leading to blindness (vascularizing keratitis [dermatologyadvisor.com]

Skin

  • Hyperkeratosis

    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. [escholarship.org]

    Keratitis-ichthyosis-deafness (KID) syndrome is a rare ectodermal dysplasia characterized by sensorineural hearing loss, photophobia and corneal vascularization, hyperkeratosis of the palms and soles, erythrokeratoderma, follicular hyperkeratosis, and [ncbi.nlm.nih.gov]

    Similarly affected patients described in the literature have the following features in common: (1) a distinctive ichthyosis characterized by a fine dry scale, follicular hyperkeratotic spines, and a reticulated pattern of hyperkeratosis on the palms and [jamanetwork.com]

    All the nails were yellowish and thickened with subungual hyperkeratosis. The patient had complete sensorineural deafness that was congenital, which eventually lead to mutism. Mucous membranes and dentition were normal. [journals.lww.com]

    Systemic retinoids reduce the hyperkeratosis but do not affect the underlying disease mechanism. They may, however, be a good choice to prevent skin cancer. [dermatologyadvisor.com]

  • Alopecia

    (b) Thick hyperkeratotic scaling on face sparing periorbital areas and lips and alopecia on scalp and eyebrows. [journals.lww.com]

    Alopecia may be present at birth. [dermatologyadvisor.com]

    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]. [escholarship.org]

    The skin lesions, described as erythrokeratoderma occurs occasionally with scarring alopecia and are predominantly on the face, palms and soles, with a typical reticulated pattern. [odermatol.com]

    Morris J, Ackerman AB, Koblenzer PJ: Generalized spiny hyperkeratosis, universal alopecia, and deafness: A previously undescribed syndrome. [revista.asocolderma.org.co]

Neurologic

  • No Speech Development

    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]. [escholarship.org]

Workup

The workup subsequently was consistent with GBS, AIDP form. [pediatrics.aappublications.org]

Treatment

Signs and symptoms such as confusion, seizures and loss of consciousness require emergency treatment. Early diagnosis and treatment of Reye's syndrome can save a child's life. [mayoclinic.org]

Treatment Treatment Options: The use of ocular lubricating preparation may supply significant relief from symptoms but scarring may eventually necessitate penetrating keratoplasty. [disorders.eyes.arizona.edu]

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]

All issues pertaining to the care of patients with ichthyosis should be discussed with a dermatologist experienced in the treatment of their skin disorder. [firstskinfoundation.org]

Treatments include IV immunoglobulin (used to treat Kawasaki disease), and anti-inflammatory drugs (corticosteroids, and drugs blocking IL-1 or IL-6). Other treatments may be used depending on the results of laboratory tests. [childrenshospital.org]

Prognosis

[…] distinctive appearance 04 Dec 2018 A-Z of syndromes: Usher syndrome Understanding Usher syndrome which is found in approximately 10,000 people in the UK 25 Oct 2018 A-Z Syndromes: Tay-Sachs disease An insight into this genetic disorder which carries a poor prognosis [rcni.com]

Course of intervention (medical and/or allied health) might be and what outcome might be expected (prognosis). Can be done to help the child. [childdevelopment.com.au]

Etiology

Etiology In 2002 the first reports showed that KID syndrome is caused by heterozygous missense mutations in the GJB2 gene. [dermatologyadvisor.com]

Epidemiology

[…] screened all admitted patients for SARS-CoV-2 infection by polymerase chain reaction testing and found that 45% of the 438 positive paediatric cases hospitalised were asymptomatic.14 In another study, investigators fit age structured mathematical models to epidemiological [bmj.com]

Pathophysiology

Pathophysiology KID syndrome is a rare congenital ectodermal disorder caused by mutations of the GJB2 gene encoding the gap junction protein connexin-26 (Cx26). [dermatologyadvisor.com]

Prevention

Hyperkeratotic, erythematous skin may prevent ECG electrodes or tape from adhering to the skin, thus making the securing of endotracheal tubes and IV catheters difficult. [accessanesthesiology.mhmedical.com]

Avoiding these two viral illnesses can help prevent Reye's syndrome. Aug. 15, 2020 [mayoclinic.org]

The NCARDRS helps scientists look for better ways to prevent and treat this condition. You can opt out of the register at any time. Page last reviewed: 30 September 2019 Next review due: 30 September 2022 [nhs.uk]

Reye's Syndrome: Why Aspirin and Children Don't Mix Definition Symptoms Prevention Outlook Reye’s Syndrome: Why Aspirin and Children Don’t Mix Over-the-counter (OTC) pain relievers can be very effective for headaches in adults. [healthline.com]

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