Olmsted syndrome: report of two cases.

Olmsted syndrome is an uncommon genetic disorder with symmetrical, diffuse, transgredient, mutilating palmoplantar keratoderma and periorificial hyperkeratosis. Olmsted syndrome in a female patient is particularly rare, and we report two unrelated female patients of Olmsted syndrome, who presented with perioral hyperkeratosis and palmoplantar keratoderma. One of our patients also had woolly hair from birth and flexion contracture of a digit, while the other had pseudoainhum. There was no cardiac involvement. Hence, the diagnosis of Olmsted syndrome was made.

Introduction

Olmsted syndrome is exceedingly rare with less than 30 case reports in literature. This disorder is characterized by symmetrical mutilating palmoplantar keratoderma along with periorificial hyperkeratosis (mouth, nose, eyes, genital, anal).[1] We describe two female patients of this syndrome. One of our patients (case 1), had woolly hair and flexion contracture of a digit, in addition to usual features, while the other had pseudoainhum.

Case Reports

Case 1

A 13-year-old girl presented to our department with curly hair from birth and thickened skin with painful fissures over palms and soles since 5 years of age [Figures 1 and 2]. The patient was the fifth born to nonconsanguineous parents. No other member of her family had similar complaints. She first developed fissuring over soles at the age of 5 years and later over the palms. Subsequently, warty skin lesions appeared over elbows, knees, dorsa of hands and buttocks. From birth, her hair was short and sparse. On examination, diffuse keratoderma with blackening and foul smell was noticed over her soles. In palms, along with keratoderma, flexion contracture of right little finger was noticed. She had keratotic papules over dorsa of hands, extensor aspect of knees, elbows and buttocks. She also had perioral erythema, hyperkeratosis and angular chelitis, in addition to perianal hyperkeratosis. Her scalp hair was sparse, woolly and her eyebrows were scanty. Her dentition was normal. Her intelligence was normal. Skin biopsy from a palmar lesion revealed massive hyperkeratosis, acanthosis and inflammatory infiltrate in the dermis. Microscopic examination revealed thin hair with less pigment. Her ECG and echocardiogram were within normal limits. Serum zinc level was normal.

Figure 1

Case 1 showing woolly hair, keratoderma of palms and flexion contracture of right little finger

Figure 2

Shows woolly hair, scanty eyebrows and perioral erythema and scaling

Case 2

A 10-year-old girl presented with thick palms and soles since few years of birth. Her parents noticed the yellowish keratotic lesions around mouth from first year of life. She had difficulty in walking and grasping objects because of thick and fissured soles and palms. She was the first born from a nonconsanguineous marriage. Her parents and siblings were normal. On examination, she had sharply marginated, yellowish, hyperkeratotic, perioral plaque, and transgredient, diffuse palmoplantar keratoderma [Figures 3 and 4]. Hyperkeratotic plaques were also seen over extensor aspect of knees and elbows. Nails of both hands and feet were dystrophic. Her hair was normal. No abnormality in oral cavity was seen. Skin biopsy from palm revealed massive hyperkeratosis, acanthosis, and papillomatosis. Histopathology of a keratotic papule showed acanthosis, suprabasal cleft and inflammatory infiltrate in dermis. Her cardiac evaluation was normal. There was no associated systemic or cutaneous disorder.

Figure 3

Case 2 showing perioral hyperkeratosis

Figure 4

Keratoderma extending over dorsal aspect of hands with keratotic papules and constriction of right little finger

Discussion

Olmsted syndrome was first described by Olmsted in the year 1927 in a 5-year-old boy with palmoplantar keratoderma and periorificial keratosis.[2] Most cases reported to date have been sporadic apart from few patients who had affected family members.[34] There was no family history in both our patients. Although both our cases were females, according to literature, males are predominantly affected.[3] Onset of Olmsted syndrome usually occurs in infancy. This condition may present with erythema around orifices and flexures at the onset. Progressive palmoplantar keratoderma (PPK) develops later. PPK is diffuse, clearly demarcated and transgredient. Linear extension of keratoderma from palms to flexor aspect of wrist can occur. Keratotic papules around orifices develop later and similar papules and plaques may appear over neck, axilla, cubital fossa, inguinal region and gluteal region.[35] In addition, these patients may exhibit universal alopecia, exaggerated keratosis pilaris, palmoplantar hyperhidrosis, oral leukokeratosis, corneal dystrophy, tooth anomaly, nail dystrophy, chronic paronychia, suppurative dactrocystitis, joint laxity, deaf mutism, primary sclerosing cholangitis, short stature and hemangioma.[356] In some patients, the condition slowly progresses, leading to mutilating flexion contractures of digits and autoamputation. In longstanding cases, progression to squamous cell carcinoma and malignant melanoma has been reported.[7] The differential diagnosis in the early stage of periorificial erythema could be acrodermatitis enteropathica. In cases of palmoplantar keratoderma, Vohwinkle keratoderma and Mal de Meleda form the differential diagnoses. But these conditions lack periorificial hyperkeratosis. The other differential diagnosis include ectodermal dysplasia and pachyonychia congenita.[8]

Since one of our patients (case 1) had woolly hair and palmoplantar keratoderma, initially Naxo's syndrome was thought of. But periodic cardiac evaluation was normal. The other differential diagnoses that were thought of include erythrokeratoderma periorificialis type, a condition in which affected patient has periorificial and acral keratoderma. As our patient had symmetrical, diffuse, transgredient palmoplantar keratoderma, periorificial keratosis, keratotic papules and plaques over extensor aspect of elbows, knees, gluteal region and dorsa of hands, along with woolly hair, a diagnosis of Olmsted syndrome was made.

Histopathology of the plaque reveals massive acanthosis, parakeratosis, papillomatosis and slight superficial perivascular infiltrate.[19] Histochemical study done in a patient showed more basal and suprabasal keratinocytes of epidermis with immunoreactivity for K167 marker.[9] Another report showed abnormal expression of keratin 5 and 14 in the epidermis.[10] Electron microscopic finding of a nucleated cell having keratohyaline granules within the stratum corneum has also been reported.[3] All these findings support the notion that Olmsted syndrome is a hyperproliferative disorder of epidermis.[310]

Treatment remains unsatisfactory. Treatment options include topical emollients, topical calcipotriol, keratolytics like salicylic acid and urea. Application of hydrocolloid dressing may alleviate pain in cases of fissures over palms and soles. Systemic retinoid produces significant improvement. Debulking surgery followed by skin grafting has been tried in some patients with flexion contractures but recurrence has been noted.[11] Our patients were started on systemic retinoids with mild improvement of keratoderma and significant improvement of periorificial keratotic plaques after 3 months of therapy.

Conclusion

There have been only few case reports of Olmsted syndrome from India. These cases are presented for rarity of occurrence.