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Recognition of Epidermal Transglutaminase by IgA and Tissue Transglutaminase 2 Antibodies in a Rare Case of Rhesus Dermatitis

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Atypical ichthyosiform erythrodernam deafness and keratitis. A report of two cases.

R J Rycroft, E J Moynahan, R S Wells

The British Journal of Dermatology

|February 1, 1976

Summary

This summary is machine-generated.

This study describes two patients with a rare ichthyosiform erythroderma and deafness syndrome. The findings highlight a unique presentation of ichthyosis, deafness, and keratitis, suggesting a distinct genetic disorder.

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Area of Science:

Dermatology
Genetics
Ophthalmology

Background:

Ichthyosiform erythroderma is a group of skin disorders characterized by scaling.
Congenital perceptive deafness is a significant hearing impairment present from birth.
Vascularizing keratitis involves abnormal blood vessel growth in the cornea.

Observation:

Two unrelated patients presented with ichthyosiform erythroderma exhibiting a specific, unusual distribution pattern.
Both individuals were diagnosed with congenital perceptive deafness from birth.
Severe vascularizing keratitis developed in early childhood for both patients.

Findings:

The described syndrome combines ichthyosiform erythroderma, perceptive deafness, and severe keratitis.
The characteristic distribution of ichthyosis in these cases is noteworthy.
No familial history was reported, suggesting a potential de novo mutation or recessive inheritance pattern.

Implications:

This case series may represent a distinct ichthyosis subtype linked to deafness and ocular complications.
Further research into the genetic basis of this syndrome is warranted.
Understanding this rare condition can aid in early diagnosis and management of affected individuals.