Symptoma

Hereditary Sclerosing Poikiloderma

Hereditary Sclerosing Poikiloderma Type Weary

Here, we report the first Korean case of HSP presented with poikiloderma and sclerotic bands on both popliteal and antecubital fossae. [ncbi.nlm.nih.gov]

This is the case with systemic sclerosis, which was suspected in two of our patients because of sclerotic changes of hands and feet associated with telangiectasias and esophageal stenosis; however, no autoantibodies were present. [dermatologyadvisor.com]

  • Asymptomatic

    Most lesions had been progressively increased in size and number with time, but he was asymptomatic. In family history, his father had similar symptoms and died in his fourties due to cardiovascular disease. [ncbi.nlm.nih.gov]

  • Clubbed Finger

    Physical examination revealed micrognathia (Fig. 1A), clubbing fingers (Fig. 1B), and slim extremities compared with trunk (Fig. 1C). [ncbi.nlm.nih.gov]

  • Hyperpigmentation

    The widespread poikiloderma characterized by speckled hypopigmentation and hyperpigmentation, slight atrophy, and minimal telangiectasia mainly involves in the flexural areas and over bony prominences (2). [ncbi.nlm.nih.gov]

    Kindler syndrome Other names Congenital poikiloderma with blisters and keratoses,[1] Congenital poikiloderma with bullae and progressive cutaneous atrophy,[1] Hereditary acrokeratotic poikiloderma,[1] Hyperkeratosis–hyperpigmentation syndrome,[2]:511 [en.wikipedia.org]

    The hypo- and hyperpigmentation may suggest EB simplex with mottled pigmentation or hereditary poikilodermas. The latter differential diagnoses may be considered if photosensitivity is prominent. Acquired disorders may mimic KS. [dermatologyadvisor.com]

  • Blister

    As individuals with Kindler syndrome age, they tend to have fewer problems with blistering and photosensitivity. [en.wikipedia.org]

    Characteristic findings on clinical examination Skin blistering begins at birth and persists during childhood, but progressively decreases with age. [dermatologyadvisor.com]

  • Cutaneous Manifestation

    Although cutaneous manifestations associated with mandibuloacral dysplasia were similar to those associated with HSP, the extracutaneous manifestations in our patient were not found in association with mandibuloacral dysplasia. [ncbi.nlm.nih.gov]

  • Eczema

    It is absent at birth and first appears within the second to fourth yr of life without prior vesiculation or eczema and progressively worsens with increasing time. [ncbi.nlm.nih.gov]

  • Skin Atrophy

    Because of skin atrophy and sclerosis, junctional or dystrophic EB may be suspected; however, in those conditions, poikiloderma is not a feature. [dermatologyadvisor.com]

  • Suggestibility

    Previously reported cases suggest that the diagnosis for HSP requires the presence of the above two features and other clinical features are not essential to diagnosis (3). [ncbi.nlm.nih.gov]

    We refer to gastroenterology when symptoms suggest the presence of oesophageal strictures. We do not recommend a baseline examination or regular check. [dermatologyadvisor.com]

curative treatment for KS is not available. [dermatologyadvisor.com]

After diagnosed as a case of HSP, we decided to observe him without any specific treatment, there was no interval change in his skin for 5 yr. He received regular cardiac evaluation, it revealed no evidence of cardiac disease until now. [ncbi.nlm.nih.gov]

[…] the interactions between actin and the extracellular matrix (focal adhesion plaques).[6] Kindler syndrome was first described in 1954 by Theresa Kindler.[7] Diagnosis[edit] Clinical and genetic tests are used to confirm diagnosis.[5] Management[edit] Treatment [en.wikipedia.org]

Etiology KS is caused by biallelic mutations in the FERMT1 (KIND1, MIM#607900) gene encoding the protein kindlin-1. [dermatologyadvisor.com]

Pathophysiology The direct mechanisms by which loss of kindlin-1 leads to the clinical manifestations of KS are not clear. Kindlin-1 is expressed in epithelial cells, e.g. epidermal keratinocytes, as well as oral and intestinal epithelial cells. [dermatologyadvisor.com]

This multidisciplinary team will also be involved in preventing secondary complications.[8] See also[edit] Rothmund–Thomson syndrome List of cutaneous conditions References[edit] a b c d Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). [en.wikipedia.org]

Patient Management Monitoring skin care: wound management, emollients, sunscreens Screening for skin cancer in adults Dental care to prevent severe periodontitis Mutation analysis and genetic counseling Unusual Clinical Scenarios to Consider in Patient [dermatologyadvisor.com]