Olmsted Syndrome?Palmoplantar and Periorificial Keratodermas: Association with Malignant Melanoma

Dessureault, Josee; Poulin, Yves; Bourcier, Marc; Gagné, Éric

doi:10.1007/s10227-002-0107-4

Cited by 17 publications

(12 citation statements)

References 24 publications

(26 reference statements)

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“…8 The first manifestations of Olmsted syndrome usually starts within the first 6 months of life. 13 In the majority of instances, it begins as the child starts to walk and grasp. Our statistical results show that the onset age is from birth to 30 years (eight cases at birth, 22 cases from 8 day to 1 year, five cases from 1 year to 2 years, four cases from 3 to 13 years, and 1 case in 30 years).…”

Section: Family History Bmentioning

confidence: 99%

“…15 Squamous cell carcinoma and malignant melanoma, respectively, developed in the area of palmoplantar keratoderma in two cases and one case. 13,[20][21][22][23] In addition, perianal and inguinal plaques frequently show maceration and infection by bacteria and Candida albicans . 6,9,10,14,15,24 This syndrome has to be differentiated from other severe forms of palmoplantar keratoderma, such as mal de Meleda syndrome, Papillon-Lefevre syndrome, Clouston syndrome, Vohwinkel syndrome, pachyonychia congenitalis, and acrodermatitis enteropathica.…”

Section: Family History Bmentioning

confidence: 99%

“…2,4,8,10,12,14,[17][18][19]22 Attempts at surgical excision of the involved skin and autografting have been unsuccessful because although some patients noted initial improvement, it was invariable followed by recurrence of the keratoderma in the skin graft. 2,13,22…”

Section: Family History Bmentioning

confidence: 99%

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Olmsted syndrome: a case report and review of literature

Tao

Huang

Yu³

et al. 2008

Int J Dermatology

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We report a case of an 18-month-old boy with slightly whitened fingernails and toenails since birth. At the age of 100 days, he progressively developed bilateral palmoplantar keratoderma which resulted in painful walking and disabled grasping. Perianal keratotic plaques and perioral hyperkeratotic erythema could also be observed. Both fingernails and toenails were dystrophic. Scalp hairs were sparse, but total alopecia was no present. The histopathologic changes of the biopsy from the inner side of the right foot showed nonspecific changes, which mainly showed highly hyperkeratosis and acanthosis with slight superficial perivascular inflammatory infiltration. A clinical diagnosis of Olmsted syndrome was established according to the typical feature of the lesions, which is the presence of symmetrical palmoplantar keratoderma with periorificial keratotic plaques. We review the literature and present a summary of all reported cases to date.

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Section: Family History Bmentioning

confidence: 99%

Section: Family History Bmentioning

confidence: 99%

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Olmsted syndrome: a case report and review of literature

Tao

Huang

Yu³

et al. 2008

Int J Dermatology

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“…Taken together, these findings indicate a high incidence of melanoma development in Japanese PLS patients. MM can also arise during other types of hereditary PPK, and the relevant previous reports are summarized in table 1[5, 8, 9,11,12,13,14,15,16,17,18,19,20,21,22]. It is remarkable that in the 18 cases of melanoma-associated PPK, 13 cases (76%) were Japanese, suggesting a high incidence of melanoma association in Japanese PPK patients.…”

Section: Discussionmentioning

confidence: 98%

Papillon-Lefèvre Syndrome and Malignant Melanoma

et al. 2008

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Papillon-Lefèvre syndrome (PLS) is a rare autosomal-recessive genodermatosis characterized by palmoplantar hyperkeratosis and severe early-onset periodontitis. The development of malignant cutaneous neoplasms within the hyperkeratotic lesions of the syndrome is quite rare. Here, we report on a 51-year-old Japanese woman with PLS associated with recurrent malignant melanoma (MM). Mutation analysis of the cathepsin C gene revealed that the proband was homozygous for a missense mutation, c.415G→A, which is predicted to result in the amino acid substitution p.G139R. Including our case, 4 families have been described as having PLS with MM, 3 of which are Japanese, implying a high incidence of melanoma development in Japanese PLS patients. We suggest that hereditary palmoplantar keratoderma (PPK) in Japanese patients might be predisposed to MM. A literature review revealed that in 18 cases of MM-associated PPK, 13 (76%) were Japanese, suggesting a high incidence of MM in Japanese PPK patients. This tendency might be attributable to the high frequency of acral lentiginous melanoma in Japanese subjects, in contrast to a lower frequency of this subtype in Caucasians.

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“…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.…”

Section: Discussionmentioning

confidence: 99%

Olmsted syndrome: Report of two cases

et al. 2011

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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.

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Olmsted Syndrome?Palmoplantar and Periorificial Keratodermas: Association with Malignant Melanoma

Cited by 17 publications

References 24 publications

Olmsted syndrome: a case report and review of literature

Olmsted syndrome: a case report and review of literature

Papillon-Lefèvre Syndrome and Malignant Melanoma

Olmsted syndrome: Report of two cases

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