HIPERQUERATOSIS PALMOPLANTAR PDF

Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed. Focal palmoplantar and gingival keratoderma is a very rare form of focal palmoplantar keratoderma characterized by painful circumscribed hyperkeratotic lesions on weight-bearing areas of soles, moderate focal hyperkeratosis of palmar pressure-related areas and an asymptomatic leukokeratosis confined to labial- and lingual- attached gingiva. Additional occasional features may include hyperhidrosis, follicular keratosis and extended oral mucosa involvement.

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Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed. Haim-Munk syndrome HMS is characterized by palmoplantar hyperkeratosis, severe early-onset periodontitis, onychogryposis, pes planus, arachnodactyly and acroosteolysis.

HMS is rare with less than cases reported in the literature so far. The majority of reported cases are descendants of a few consanguineous families from a religious isolate in Cochin, India.

One unrelated Brazilian patient has also been reported. HMS presents with severe and extensive skin manifestations. In addition to the marked palmoplantar keratosis, patients have scaly erythematous and circumscribed patches on the elbows, knees, forearms, shins and dorsum of the hands. Severe, early-onset progressive periodontitis that affects both the deciduous and permanent dentitions and presents with gingival inflammation and alveolar bone destruction is a hallmark of the disease.

Onychogryposis, arachnodactyly, acroosteolysis and pes planus are additional features that help to distinguish HMS from other forms of palmoplantar hyperkeratosis. A peculiar deformity of the fingers tapered, pointed phalangeal ends and a claw-like volar curve is typical. Destructive arthritis of the wrist and shoulder joints has been reported in isolated cases.

Patients with HMS have increased susceptibility to infections. Differential diagnosis includes the allelic disorder PLS and disorders with palmoplantar hyperkeratosis and prepubertal periodontitis.

Management of the skin manifestations requires topical emollients, keratolytics including salicylic acid and urea and oral retinoids acitretin, etretinate, and isotretinoin. Periodontitis in HMC is usually unresponsive to traditional periodontal therapies. Patients may benefit from extraction of the primary teeth combined with oral antibiotics and professional tooth cleaning. Synovectomy has been shown to alleviate the inflammation associated with destructive arthritis but may lead to loss in the range of the joint motion.

Other search option s Alphabetical list. Suggest an update. Summary and related texts. Related genes. Clinical signs. Check this box if you wish to receive a copy of your message. Disease definition Haim-Munk syndrome HMS is characterized by palmoplantar hyperkeratosis, severe early-onset periodontitis, onychogryposis, pes planus, arachnodactyly and acroosteolysis.

Summary Epidemiology HMS is rare with less than cases reported in the literature so far. Clinical description HMS presents with severe and extensive skin manifestations. Diagnostic methods Diagnosis is clinical but can be confirmed by detection of the disease-causing mutation.

Differential diagnosis Differential diagnosis includes the allelic disorder PLS and disorders with palmoplantar hyperkeratosis and prepubertal periodontitis. Genetic counseling HMS is transmitted as an autosomal recessive trait. Management and treatment Management of the skin manifestations requires topical emollients, keratolytics including salicylic acid and urea and oral retinoids acitretin, etretinate, and isotretinoin.

Detailed information Professionals Summary information Japanese , pdf. Additional information Further information on this disease Classification s 5 Gene s 1 Other website s 3. Health care resources for this disease Expert centres Diagnostic tests 9 Patient organisations 28 Orphan designation s and orphan drug s 0.

Specialised Social Services Eurordis directory. The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.

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Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed. Haim-Munk syndrome HMS is characterized by palmoplantar hyperkeratosis, severe early-onset periodontitis, onychogryposis, pes planus, arachnodactyly and acroosteolysis. HMS is rare with less than cases reported in the literature so far.

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