Autosomal dominant inheritance of HID syndrome (hystrix-likeichthyosis with deafness)

A. König; W. Küster; R. Berger; R. Happle

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Autosomal dominant inheritance of HID syndrome (hystrix-likeichthyosis with deafness)

European Journal of Dermatology. Volume 7, Number 8, 554-5, December 1997, Gènes et peau

Summary

Author(s) : A. König, W. Küster, R. Berger, R. Happle.

Summary : Hystrix-like ichthyosis with deafness (HID) syndrome represents a distinct disorder of keratinization that occurs in both sexes. Bilateral neurosensory deafness and hystrix-like ichthyotic erythroderma are present in infancy. far, all reported cases have been sporadic. The first patient affected with HID syndrome was described in 1977 and because of peculiar ultrastructural features the disease was initially named “ichthyosis hystrix gravior, type Rheydt” after the city of origin of this patient. Twenty years later, the same patient presented in our department with his son born in February 1997. The 3-month-boy has neurosensory deafness and typical cutaneous involvement including red hyperkeratotic papules on the face and disseminated induration of entire skin with diffuse dark-yellow hyperkeratoses. A skin biopsy has so not been permitted by the parents. This is the first report of familial occurrence of HID syndrome. Documentation of father-to-son transmission provides evidence of autosomal dominant inheritance of the trait.

Keywords : ichthyosis hystrix gravior, type Rheydt genodermatoses.)

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ARTICLE

A 17-year-old male patient with ichthyosis hystrix and bilateral hearing loss was described in 1977 [1, 2]. Since then, sporadic cases of both sexes have been reported [3-5, 8]. Because of characteristic electron microscopic features the disease was considered a distinct entity and was initially named "ichthyosis hystrix gravior, type Rheydt" [4-7]. In order to take into account the important otological component of this phenotype, Traupe [8] suggested the term HID syndrome (hystrix-like ichthyosis with deafness). The disease becomes manifest shortly after birth with erythematous patches. At the age of 1 year, spiky and cobblestone-like hyperkeratotic masses involve the entire skin. The palms and the soles are only mildly affected. Scarring alopecia may occur. Histopathological features resemble those of lamellar ichthyosis and are not diagnostic. Ultrastructural changes include excess formation of mucous-containing granules and reduction of tonofibrils [4-7].

Because familial occurrence has so far not been reported, the genetic basis of the disease was not clear. We describe here a father-to-son transmission of the disorder, providing evidence of autosomal dominant inheritance.

Case report

In May 1997, a boy aged 3 months was presented by his father who himself suffers from HID syndrome. The father, who represents the first case to be described in the literature [1, 2], shows the full-blown manifestations of HID syndrome with ichthyotic skin changes on the entire body including flexural surfaces, the face and the scalp. Grayish brown spiky or cobblestone-like hyperkeratoses are seen on the limbs and the face (Figs. 1 and 2). Neurosensory deafness was present as already described in 1977. The boy's mother suffers from deafness due to meningitis.

On physical examination, the baby showed red hyperkeratotic papules on the face as well as diffuse induration and thickening of the entire skin in the form of dark-yellow hyperkeratotic changes (Fig. 3). Coarse, red skin folds were present on the limbs including the dorsal aspects of the hands (Fig. 4), whereas the palms and the soles were not affected. The parents did not give permission to take a skin biopsy from their son. A hearing test performed by measuring EEG potentials revealed bilateral neurosensory hearing loss close to deafness.

Comment

The HID syndrome (hystrix-like ichthyosis with deafness or "ichthyosis hystrix gravior, type Rheydt") has so far been exclusively described as sporadic cases [1-8]. The present report documents father-to-son transmission. Hence, X-linked inheritance can be excluded and the phenotype can be categorized as an autosomal dominant trait. The baby's father was the first patient described with this disorder, and in fact the disease was initially named after his home town, Rheydt near Düsseldorf (Germany).

An important differential diagnosis of HID syndrome is KID syndrome (keratitis, ichthyosis-like hyperkeratosis and deafness) as first described by Burns in 1915 [9]. This phenotype does not represent a true form of ichthyosis but rather a particular type of erythrokeratoderma and can be differentiated from the HID syndrome by a number of features [8]. The similarities between both conditions include neurosensory deafness and proneness to bacterial and mycotic skin infections. However, skin changes in the KID syndrome may be present at birth in the form of hyperkeratotic erythroderma that resolves spontaneously. Later on, hyperkeratotic plaques recur but they never involve the trunk. The palms and the soles are severely affected, which represents a feature dissimilar from the HID phenotype. Moreover, the electron microscopice features observed in the two syndromes are different.

CONCLUSION

We provide clinical evidence that HID syndrome is transmitted as an autosomal dominant trait. Consequently, the phenotype should be included in McKusick's Catalog of Human Genes and Genetic Disorders [10].

REFERENCES

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