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Year : 2011  |  Volume : 56  |  Issue : 5  |  Page : 591-593
Olmsted syndrome: Report of two cases

Department of Dermatology, Madras Medical College, Chennai, India

Date of Web Publication4-Nov-2011

Correspondence Address:
G K Tharini
No. 108, Vellala Street, Purasaiwalkam, Chennai 84
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/0019-5154.87166

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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.

Keywords: Olmsted syndrome, palmoplantar keratoderma, perioral hyperkeratosis, woolly hair

How to cite this article:
Tharini G K, Hema N, Jayakumar S, Parveen B. Olmsted syndrome: Report of two cases. Indian J Dermatol 2011;56:591-3

How to cite this URL:
Tharini G K, Hema N, Jayakumar S, Parveen B. Olmsted syndrome: Report of two cases. Indian J Dermatol [serial online] 2011 [cited 2022 Nov 27];56:591-3. Available from:

   Introduction Top

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 Top

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 [Figure 1] and [Figure 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

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Figure 2: Shows woolly hair, scanty eyebrows and perioral erythema and scaling

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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 [Figure 3] and [Figure 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

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Figure 4: Keratoderma extending over dorsal aspect of hands with keratotic papules and constriction of right little finger

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   Discussion Top

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. [3],[4] 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. [3],[5] 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. [3],[5],[6] 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 More Details 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. [1],[9] Histochemical study done in a patient showed more basal and suprabasal keratinocytes of epidermis with immunoreactivity for K 1 67 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. [3],[10]

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 Top

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

   References Top

1.Tao J, Huang CZ, Yu NW, Wu Y, Liu YQ, Li Y, et al. Olmsted syndrome: A case report and review of literature. Int J Dermatol 2008;47:432-7.  Back to cited text no. 1
2.Olmsted HC. Keratodermia Palmaris et plantaris congenitalis: Report of a case showing associated lesions of unusual location. Am J Dis Child 1927;33:757-64.  Back to cited text no. 2
3.Ogawa F, Udono M, Murota H, Shimizu K, Takahashi H, Ishida-Yamamoto A, et al. Olmsted syndrome with squamous cell carcinoma of extremities andadenocarcinoma of the lung: Failure to detect loricrin gene mutation. Eur J Dermatol 2003;13:524-8.  Back to cited text no. 3
4.Yaghoobi R, Omidian M, Sina N, Abtahian SA, Panahi-Bazaz MR. Olmsted syndrome in an Iranian family: Report of two new cases. Arch Iran Med 2007;10:246-9.  Back to cited text no. 4
5.Perry HO, Su WP. Olmsted syndrome. Semin Dermatol 1995;14:145-51.  Back to cited text no. 5
6.Al-Mutairi N, Sharma AK, Nour-Eldin O, Al-Adawy E. Olmsted syndrome: Report of a new case with unusual features. Clin Exp Dermatol 2005;30:640-2.  Back to cited text no. 6
7.Dessureault J, Poulin Y, Bourcier M, Gagne E. Olmsted syndrome-palmoplantar and periorificial keratodermas: Association with malignant melanoma. J Cutan Med Surg 2003;7:236-42.  Back to cited text no. 7
8.Poulin Y, Perry HO, Muller SA. Olmsted syndrome--congenital palmoplantar and periorificial keratoderma. J Am Acad Dermatol 1984;10:600-10.  Back to cited text no. 8
9.Requena L, Manzarbeitia F, Moreno C, Izquierdo MJ, Pastor MA, Carrasco L, et al. Olmsted syndrome: Report of a case with study of the cellular proliferation in keratoderma. Am J Dermatopathol 2001;23:514-20.  Back to cited text no. 9
10.Fonseca E, Del Pozo J, Almagro M, Yebra MT, Cuevas J, Contreras F, et al. Olmsted syndrome. J Cutan Pathol 2001;28:271-5.  Back to cited text no. 10
11.Armstrong AP, Percival N. Olmsted's syndrome. J R Soc Med 1997;90:81-2.  Back to cited text no. 11


  [Figure 1], [Figure 2], [Figure 3], [Figure 4]

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