Nonmutilating palmoplantar and periorificial kertoderma: a variant of Olmsted syndrome or a distinct entity?

Nofal, Ahmad; Assaf, Magda; Nassar, Amany; Nofal, Eman; Shehab, Marwa; El-Kabany, Moustafa

doi:10.1111/j.1365-4632.2009.04429.x

Cited by 11 publications

(16 citation statements)

References 30 publications

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“…Progressive PPK with psoriasiform acantholysis and periorificial hyperkeratosis is the classical hallmark of Olmsted syndrome. Acantholysis of the upper epidermis, thin bundles of keratin and nonspecific defective keratinization have previously been described in a nonmutilating form of Olmsted syndrome, while for other cases coarse keratohyalin, clumping of keratin at the desmosomal plaque and an increased number of desmosomes have been reported, but the known genetic causes of Olmsted syndrome were excluded in the beginning in our patients.…”

Section: Comparison Of Features Between Published Patients With Sam Smentioning

confidence: 70%

Whole-exome sequencing identifies novel autosomal recessive DSG1 mutations associated with mild SAM syndrome

et al. 2015

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Section: Comparison Of Features Between Published Patients With Sam Smentioning

confidence: 70%

Whole-exome sequencing identifies novel autosomal recessive DSG1 mutations associated with mild SAM syndrome

et al. 2015

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“…Indeed, progression of the keratoderma may lead to flexion deformities, constrictions of digital bands and even spontaneous digit amputations. However, this pseudoainhum feature is in fact inconsistently reported in OS patient [ 45 ]. In addition, in rare cases, periorificial keratotic plaques are absent [ 55 , 56 ].…”

Section: Reviewmentioning

confidence: 84%

Olmsted syndrome: clinical, molecular and therapeutic aspects

Duchatelet

Hovnanian

2015

Orphanet J Rare Dis

114

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Olmsted syndrome (OS) is a rare genodermatosis classically characterized by the combination of bilateral mutilating transgredient palmoplantar keratoderma (PPK) and periorificial keratotic plaques, but which shows considerable clinical heterogeneity. The disease starts usually at birth or in early childhood. About 73 cases have been reported worldwide. OS is observed in both sexes, although male cases are more frequent. The most suggestive symptoms associate PPK with pseudoainhum and periorificial keratotic plaques. Frequently associated features include hair and nail abnormalities, leukokeratosis, corneal default and recurrent infections. Pain and itching are variable but can be severe. Most of reported OS cases are sporadic, although familial cases with different mode of inheritance were also described. Mutations in TRPV3 (Transient receptor potential vanilloid-3) gene have recently been identified as a cause of autosomal dominant (gain-of-function mutations) or recessive OS. Mutations in MBTPS2 (membrane-bound transcription factor protease, site 2) gene were identified in a recessive X-linked form. The diagnosis relies mainly on clinical features associating severe PPK and periorificial keratotic plaques, but can be challenging in patients with incomplete phenotype or atypical features. OS has to be differentiated from other severe forms of PPK including Vohwinkel, Clouston, Papillon-Lefèvre or Haim-Munk syndromes, Mal de Meleda, pachyonychia congenita, Tyrosinemia type II and acrodermatitis enteropathica. When differential diagnoses are difficult to exclude, genetic studies are essential to search for a TRPV3 or MBTPS2 mutation. However, additional genes remain to be identified. No specific and satisfactory therapy is currently available for OS. Current treatments of hyperkeratosis (mainly emollients, keratolytics, retinoids or corticosteroids), either topical or systemic, are symptomatic and offer only temporary partial relief. Specific management of pain and itching is important to reduce the morbidity of the disease. The disease is debilitating and progressive keratoderma and auto-amputation of digits can prevent patients from grasping and walking, and confine them to a wheelchair. New therapeutic options are therefore crucial and are expected from a better understanding of the disease mechanisms. The use of TRPV3 antagonists would represent such a targeted and potentially powerful strategy.

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“…OS usually begins in the first 6 months of life by PPK. However, a late onset at the ages of 13 and 30 has been reported [2,5,8]. The pathogenesis of this disorder is still poorly understood, but there is cytochemical evidence of hyperproliferation of the epidermis [1].…”

Section: Discussionmentioning

confidence: 99%

“…Most cases are sporadic, but there is occasional familiar occurrence. The genetics underlying this syndrome have not been elucidated yet [2]. Clinical features of OS include diffuse alopecia, leukokeratose of oral mucosa, onychodystrophy, hyperkeratotic linear streaks, follicular keratosis and anhidrosis.…”

Section: Introductionmentioning

confidence: 99%

Olmsted Syndrome Associated with Pseudomonilethrix: A New Case from Turkey

2014

J Turk Acad Dermatol

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Observation: Olmsted syndrome (OS) is a very rare genetic disorder, which includes diffuse alopecia, leukokeratose of oral mucosa, onychodystrophy , hyperkeratotic linear streaks, follicular keratosis and anhidrosis. Pseudomonilethrix shaft anomaly is characterized by hair shafts with elliptical nodes at variable intervals and separated by narrower internodes. To the best of our knowledge, we present here the first documented case of OS associated with pseudomonilethrix hair shaft abnormality.

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Nonmutilating palmoplantar and periorificial kertoderma: a variant of Olmsted syndrome or a distinct entity?

Cited by 11 publications

References 30 publications

Whole-exome sequencing identifies novel autosomal recessive DSG1 mutations associated with mild SAM syndrome

Whole-exome sequencing identifies novel autosomal recessive DSG1 mutations associated with mild SAM syndrome

Olmsted syndrome: clinical, molecular and therapeutic aspects

Olmsted Syndrome Associated with Pseudomonilethrix: A New Case from Turkey

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