|Year : 2017 | Volume
| Issue : 2 | Page : 113-115
Olmsted syndrome in three siblings
Sudhaa Skin Centre, Jammu, Jammu and Kashmir, India
|Date of Web Publication||27-Mar-2017|
Sudhaa Skin Centre, 35-A, Lane No. 7, Tawi Vihar, Sidhra - 180 019, Jammu, Jammu and Kashmir
Source of Support: None, Conflict of Interest: None
Olmsted syndrome (OS) is a rare congenital, sharply circumscribed transgredient palmoplantar keratoderma, first described by Olmsted in 1927, characterized by clinical features such as symmetrical involvement of keratoderma of the palms and soles and the symmetrical hyperkeratotic plaques around the body orifices. Other clinical findings include flexion deformities of the fingers, localized alopecia, leukokeratosis of the tongue, short stature, and laxity of the large joints. It starts in the neonatal period or in childhood. The disease has a slow but progressive and extremely disabling course. Treatment of OS is often based on topical therapy with retinoic acid, corticosteroid, emollients, and keratolytics. We present a case of OS in three siblings, two males and a female, born to nonconsanguineous parents with no family history. They were treated with topical corticosteroids and emollients and showed mild improvement in symptoms.
Keywords: Genodermatosis, Olmsted syndrome, palmoplantar keratoderma, periorificial keratotic plaques
|How to cite this article:|
Gupta M. Olmsted syndrome in three siblings. Indian J Paediatr Dermatol 2017;18:113-5
| Introduction|| |
Olmsted syndrome (OS) is a rare genodermatosis belonging to the heterogeneous group of palmoplantar keratoderma (PPK) which clinically manifests as symmetrical sharply defined mutilating hyperkeratotic plaques on the palms and soles, associated with periorificial keratotic plaques. Additional clinical findings include flexion deformities of the digits, localized alopecia, leukokeratosis of the tongue, short stature, and laxity of the large joints. Herewith, we present a case of OS in three siblings, two males and a female, born to nonconsanguineous parents with no family history.
| Case Report|| |
Three siblings comprising eldest female aged 11 years, two younger males aged 5 and 3 years, presented to us with complaints of thickening of palms and soles since infancy, recurrent episodes of fissuring of oral fissures, and gradual appearance of papular lesions over the buttocks, trunk, elbows, knees, and dorsa of hands. The children were born to nonconsanguineous parents, and no other family member had similar complaints. All the three siblings were born by normal vaginal delivery and were completely normal at their birth, but they developed thickening of palms and soles within the 1st year of life. The papular lesions remained asymptomatic but had gradually progressed to involve the buttocks, dorsa of hands and feet, elbows, and knees along with frequent scaling and fissuring of oral fissures. On examination, the patients were generally well built and their physical, mental, and hearing developments were normal. There was no evidence of any associated systemic disease. On cutaneous examination, diffuse bilateral symmetrical, thickened, yellowish, waxy hyperkeratotic plaques were present on both the palms and soles, with scaly keratotic papules and plaques on the abdomen, buttocks, dorsum of the hands and feet, elbows, and knees [Figure 1],[Figure 2],[Figure 3]. Two of the siblings had had perioral erythema, hyperkeratosis, and angular cheilitis with nasal mucosa erosions [Figure 4]. Hair and teeth examination revealed no abnormality. Routine laboratory tests and serum zinc were all within normal range. Skin biopsy from a hyperkeratotic papule revealed hyperkeratosis, acanthosis, and mild perivascular chronic inflammatory dermal infiltrate [Figure 5]. Based on clinical, laboratory, and histopathological findings, the diagnosis of OS was reached. The patients were prescribed topical emollients and topical corticosteroids, which led to mild improvement in clinical symptoms.
|Figure 2: Keratotic papules and plaques involving dorsa of hands and feet in all siblings|
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|Figure 4: Periorificial erythema and hyperkeratosis present in two siblings|
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|Figure 5: Histopathological examination showing hyperkeratosis, acanthosis, and mild perivascular chronic inflammatory dermal infiltrate (H and E, ×40)|
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| Discussion|| |
OS, first described by Olmsted in 1927, consists of the classical clinical phenotype of bilateral mutilating PPK and periorificial keratotic plaques. The definitive mode of inheritance is still uncertain, and autosomal-dominant, X-linked-dominant, and X-linked recessive modes of inheritance have been proposed. Studies have shown that gain of function mutations within TRPV3 on chromosomal region 17p13 gives rise to the OS phenotype. Mutations in membrane-bound transcription factor protease, site 2 (MBTPS2) gene, encoding a zinc metalloprotease essential for cholesterol homeostasis and endoplasmic reticulum stress response, have also been reported in recessive X-linked OS. However, there is no obvious clinical difference between OS caused by TRPV3 and MBTPS2 mutations despite the mode of inheritance.
The disease starts in the neonatal period or in childhood and has a slow but progressive and extremely disabling course. PPK is diffuse, clearly demarcated, and transgredient but the progression of the keratoderma may lead to flexion deformities, constrictions of digital bands, and even spontaneous digit amputations. Keratoderma gradually becomes diffuse, massive, and thicker and with time may develop painful deep fissures. Pain in keratoderma can be disabling causing the patient to avoid walking and grasping., Keratotic papules around orifices develop later, and similar lesions may appear over the neck, axilla, cubital fossa, inguinal region, and gluteal region. The keratotic lesions are pruritic and can be painful with pressure., Other clinical manifestations of OS include leukokeratosis of the tongue or the oral mucosa, diffuse alopecia, sparse hair, nail dystrophy, hyperhidrosis of the palms and soles, hypohidrosis, hyperkeratotic linear streaks on the elbows, knees, axillae, and antecubital fossae. Multiple systemic associations have been reported which include growth retardation, dental anomalies, hearing loss, sclerosing cholangitis, and corneal opacities.,,, Squamous cell carcinoma and malignant melanoma have also been reported to develop in the area of PPK., The differential diagnosis includes other syndromes of PPK and hyperkeratotic syndromes.
There is no satisfactory treatment for this condition. Topical treatments include solution of potassium permanganate, wet dressing, salicylic acid in various concentrations, urea, tar, retinoic acid, corticosteroids, and prolonged soaking of the affected parts in warm water. In several OS patients with severe symptoms, systemic retinoids, corticosteroid, or methotrexate have been tried with poor to moderate relief. Specific treatments of pain and itching are essential to reduce the morbidity of the disease. For nonresponsive patients, full-thickness excision of hyperkeratotic plaques followed by skin grafting is another therapeutic option to alleviate the pain.,,
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[Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5]