A Rare Case Report – Familial Congenital Ichthyosis with Review of Literature

CLINICAL CASES

Vela Desai

_{, Sudakshina Das}

_{, Rajeev Sharma}

A Rare Case Report – Familial Congenital Ichthyosis

with Review of Literature

Opis rzadkiego przypadku wrodzonej rybiej łuski

z przeglądem piśmiennictwa

Oral Medicine and Radiology, Jaipur Dental College, Jaipur, India

A – research concept and design; B – collection and/or assembly of data; C – data analysis and interpretation; D – writing the article; E – critical revision of the article; F – final approval of article

Abstract

Dermatological diseases, although seldom life threatening, can be extremely disfiguring and can interfere with the quality of life of individuals. Some of these diseases are common and are caused by hereditary as well as acquired factors, like atopic dermatitis and psoriasis. Others are much rarer and involve mainly hereditary factors as in this case of ichthyosis erythoderma. It is important to distinguish nonsyndromic from syndromic forms of ichthyosis. Ichthyosis vulgaris and recessive X-linked ichthyosis are common disorders – often of delayed onset, in contrast to congenital ichthyoses, which belong to the group of rare diseases and are present at birth with either the fea-tures of collodion membrane or congenital ichthyosiform erythroderma. Inheritance is autosomal dominant, i.e. it is passed from a parent to about half their children. Signs and symptoms of ichthyosis usually become apparent within the first year of life. The diagnosis is based on clinical findings and skin biopsy reports. These disorders usually affect tissues of epidermal origin, but rarely invade oral tissue. Here we present a unique case of dermal ichthyosis with multiple oral findings (Dent. Med. Probl. 2014, 51, 2, 247–251).

Key words: ichthyosis, dermatological diseases, congenital.

Streszczenie

Dermatozy rzadko są zagrożeniem życia, mogą jednak bardzo szpecić i wpływać na jakość życia. Niektóre z nich występują często i są wywoływane przez czynniki wrodzone jak również nabyte, na przykład atopowe zapalenie skóry i łuszczyca. Inne są znaczne rzadsze i wywoływane głównie przez czynniki wrodzone, np. erytrodermia ich-tiotyczna wrodzona. Ważne jest różnicowanie między formami ichtioz dającymi i niedającymi zespół objawów chorobowych. Rybia łuska zwykła o dziedziczeniu recesywnym związanym z płcią jest częstym schorzeniem, a jej pierwsze objawy chorobowe obserwuje się na ogół późno. Wrodzona rybia łuska jest natomiast chorobą rzadką, a pierwsze objawy występują w momencie urodzenia jako uszkodzenie płodu lub erytrodermia ichtiotyczna wro-dzona. Dziedziczenie jest autosomalne recesywne, czyli przekazywane przez rodziców na połowę ich potomstwa. Zmiany skórne są obecne przy urodzeniu, a najpóźniej pojawiają się w pierwszym roku życia. Rozpoznanie następuje przez kliniczne badanie dermatologiczne oraz badanie histopatologiczne. Choroba polega na nieprawidłowościach nabłonków, a zmiany w jamie ustnej są rzadkie. W pracy przedstawiono rzadki przypadek wrodzonej rybiej łuski z wieloma zmianami w jamie ustnej (Dent. Med. Probl. 2014, 51, 2, 247–251).

Słowa kluczowe: rybia łuska, choroby dermatologiczne, wady wrodzone.

Dent. Med. Probl. 2014, 51, 2, 247–251

ISSN 1644-387X © Copyright by Wroclaw Medical University and Polish Dental Society

Ichthyoses are a heterogenous group of heredi-tary keratinisation disorders of the skin that share the accumulation and shedding of large amounts of hyperkeratotic epidermis. It forms a part of clinically and etiologically heterogeneous group of mendelian disorders of cornification (MEDOC)

and generally affects all or most of the integu-ment.

Scaling and a thickening of the cornfield lay-er are one of the charactlay-eristic clinical features which often accompany inflammation of the skin presenting itself as erythroderma. The major

cri-terion for classification is the question of possibly associated symptoms, such as failure to thrive, se-vere atopy, neurologic abnormalities, hepatic or skeletal involvement, or hair abnormality. Ich-thyosis is derived from the Greek word ikhthus meaning “fish” and refers to the similarity in ap-pearance of skin to fish scale. Early reports of ich-thyosis in Indian and Chinese literature date back to several hundred years [1]. The progress in defin-ing the disease is based on the molecular basis and in establishing genotypic-phenotypic correlations. The estimated incidence is between 1 in 300,000 and 1 in 500,000.

There is little knowledge about the oral man-ifestations of this disorder and in some patients teeth develop normally but in others they are de-fective and likely to develop caries [2].

Case Report

An 8 year-old female patient reported to the Department of Oral Medicine and Radiology along with her parents with the chief complaint concerning decayed upper front teeth appearing a year ago. There was a history of consanguinity

and similar dermatological diseases in the fami-ly. The patient’s maternal aunt and cousin brother had similar lesions (Fig. 8–10) since birth associat-ed with joint pain in both legs, which lassociat-ed to severe deformities 15 years ago.

A detailed general examination revealed dif-fuse brownish scales over the entire body of the child including both hands and legs. Thin sparse eyebrows and eyelashes were present. Nails were normal. The patient’s mother reported that there

Fig. 1. Brownish scales on the face

Ryc. 1. Brazowawe łuszczenie się skóry na twarzy

Fig. 2. Scanty eyebrows and eyelashes Ryc. 2. Rzadkie brwi i rzęsy

Fig. 3. Scaling of the scalp Ryc. 3. Łuszczenie się skóry głowy

Fig. 4. Brownish scaling

on the hands

Ryc. 4. Brązowawe

was a regular shedding of the scales with itching but no discharge was reported (Fig. 1–4). An intra- -oral examination yielded no clinically significant findings and the patient had good oral hygiene. Though hard tissue examination revealed that 51, 52, 62, 64, 65, 74, 85 were decayed (Fig. 5). The pa-tient’s maternal aunt had a similar type of derma-tological disease. The affected areas were the scalp, face, ears, neck, both hands and legs. An intraoral

examination found that there were missing teeth with respect to 14, 16, 22, 24, 26, and dental car-ies in 37, 46, 47. The patient’s skin biopsy was done and a provisional diagnosis for the skin lesion was non-bullous ichthyosiform erythroderma [NBIE].

Since the patient was uncooperative, the pro-cedure had to be carried out under general anes-thesia in a hospital setting; prior to this, however, the child was referred to a pediatrician for consul-tation and an anesthesiologist regarding an anes-thetic evaluation.

Restoration was done with respect to the de-cayed teeth (Fig. 7) and the patient is under regu-lar follow up.

Fig. 5. Intraoral examination before treatment Ryc. 5. Obraz jamy ustnej przed leczeniem

Fig. 6. Orthopantamogram

of the patient reveals mul-tiple carious teeth and mal-formed 51, 61

Ryc. 6. Zdjęcie

pantomogra-ficzne opisywanego dziecka z wieloma ubytkami zębo-wymi i zniekształconymi zębami

Fig 7. Intraoral examination after restoration with

stainless steel crown

Ryc. 7. Obraz jamy ustnej po wykonaniu koron

prote-tycznych ze stali nierdzewnej

Ryc. 8. Maternal aunt with diffuse brownish scaling on

the entire face

Fig. 8. Ciotka ze strony matki z masywnym

brązowa-wym łuszczeniem się skóry twarzy

Discussion

Ichthyoses constitute a group of rare, chronic, and debilitating diseases that are difficult to assess solely by clinical examination. The precise diagno-sis of ichthyodiagno-sis is based on the clinical presenta-tion (skin and associated symptoms), detailed med-ical and family history, skin biopsies, and laborato-ry findings. The diagnosis should be confirmed by

a mutation analysis to allow for genetic counseling, which should be offered to the family or affected individual. There is very less information about the oral manifestations of congenital ichthyosis.

Erythroderma is defined as an inflammatory skin disorder affecting more than 90% of the body surface [3]. NBIE is a rare nonblistering disorder of the skin characterized by fine grayish-white scales and erythroderma. This disorder is inherit-ed as an autosomal recessive trait except for a few cases which is caused by a dominant trait. There are hyperkeratotic plaques over the face which give the patients an appearance of premature aging as was seen in the present case [4].

The clinical features of infants with congenital ichthyosis are typical with sparse and short scalp hair as in this case [5]. Hyperkeratosis is particular-ly noticeable around the knees, upper arm, elbows, and ankles, which appear soon or shortly after birth and is the most common form of ichthyosis to pres-ent itself as a collodion baby with a glistening mem-brane resembling sausage skin as in our case [6].

No visceral malformation is reported, the dis-order consists exclusively of an error of epidermal keratinization. Respiratory movements are re-stricted; secondary infection and septicemia are frequent complications. Death usually occurs in the first few weeks of life. Miteva [7] recorded both hair and dental abnormalities in his study.

There is no specific treatment for ichthyosis. Major treatment consists of symptomatic ther-apy for complications and cosmetic purposes. Oral retinoids display an impressive antikerati-nizing effect in ichthyosiform dermatoses. Etret-inate (1 mg/kg/d) and isotretinoin (2 mg/kg/d)

have been shown to reduce scaling, discomfort, and disfigurement. However, when these drugs are discontinued, the ichthyotic skin recurs, there-by necessitating long-term use. Similarly, liarozole (150 mg bid), an imidazole derivative, inhibits the cytochrome P450-dependent 4-hydroxylation of retinoic acid, resulting in increased tissue levels of retinoic acid and a reduction in epidermal prolif-eration and scaling [8]. Topical cyclosporine A 2% given 3 times daily has been shown to be benefi-cial in the treatment of ichthyosiform keratitis as-sociated with KID syndrome [9].

In some patients, teeth are normally devel-oped but in others they are defective and likely to develop caries [10]. This patient had never under-gone any dental evaluation earlier. Intraoral ex-amination revealed multiple carious teeth, and missing teeth. Cremers et al. [11] observed early childhood deafness, congenital nonbullous ich-thyosiform erythroderma, corneal involvement, photophobia, chronic blepharoconjunctivitis, hy-potrichosis, anhidrosis, hyperkeratosis of the nails and dental dysplasia.

Conclusion

In the majority of cases regarding ichthyosis, there have been no oral findings reported. In our case, in addition to the already proven dermatological features, there are also dental manifestations, which made this case very much unique. There are no sig-nificant dental considerations with respect to treat-ment point of view, but care should be taken when exploring the skin because it is extremely fragile.

Fig. 9. Scaling on the leg Ryc. 9. Łuszczenie się skóry

kończyny dolnej

Fig. 10. Cousin brother

hav-ing similar scalhav-ing in the legs

Ryc. 10. Podobne łuszczenie

References

[1] Fleckman P., DiGiovanna J.J.: The ichthyoses. In: Fitzpatrick’s Dermatology in General Medicine. Eds. Wolff K., Katz S., Goldsmith L. et al. 7th Ed. New York, McGraw-Hill Division 2008, 414.

[2] Burns F.S.: A case of generalized congenital erythroderma. J. Cutan. Dis. 1915, 33, 255–260.

[3] Burton J.L.: Eczema, lichenification, prurigo and erythroderma. In: Rook/Wilkinson/Ebling Textbook of Derma-tology. Eds.: Champion R.H., Burton J.L., Ebling F.J.G. 5th ed. Vol. 1. Oxford: Blackwell Scientific Publications, 1992, 537–588.

[4] Langer K., Konrad K., Wolff K.: Keratitis, ichthyosis and deafness (KID)-syndrome: report of three cases and a review of the literature. Br. J. Dermatol. 1990, 122, 689–697.

[5] DiGiovanna J.J.: Ichyhosiform dermatoses. In: Dermatology in General Medicine. Eds.: Freedberg I.M., Eis-en A.Z., Wolff K. et al. 5th ed. New York, McGraw Hill 1999, 581–603.

[6] Judge M.R., Harper J.I.: The ichthyoses. In: Inherited Skin Diseases. The Genodermatoses. Ed.: Harper J.I. Ox-ford, Butterworth 1996, 69–96.

[7] Miteva L.: Keratitis, ichthyosis, and deafness (KID) syndrome. Pediatr. Dermatol. 2002, 19, 513–516.

[8] Grob J.J., Breton A., Bonafe J.L. et al.: Keratitis, ichthyosis and deafness (KID) syndrome. Vertical transmission and death from multiple squamous cell carcinoma. Arch. Dermatol. 1987, 123, 777–782.

[9] Bolgül B., Hamamci N., Akdeniz S., Çelenk S.: Oral manifestations of lamellar ichthyosis; a case report. Iran J. Pediatr. 2009, 19, 298-302.

[10] Kenneth M.: Goins. Ichthyosis, treatment and management. Medscepe, IU Health, 2011.

[11] Cremers C.W., Philipsen V.M., Mali J.W.: Deafness, ichthyosiform erythroderma, corneal involvement, photo-phobia and dental dysplasia. J. Laryngol. Otol. 1977, 91, 585–590.

Address for correspondence:

Vela Desai

Jaipur Dental College, Dhand 302001 Jaipur

India

E-mail: veladesai@hotmail.com Conflict of interest: None declared Received: 5.03.2014

Revised: 7.05.2014 Accepted: 16.05.2014

Praca wpłynęła do Redakcji: 5.03.2014 r. Po recenzji: 7.05.2014 r.