We report an 18-yr-old male who presented reticular hyperpigmented lesions on the trunk and extremities since 2-yr-old. Also, linear sclerosing bands appeared on both antecubital and popliteal fossae after yr. [semanticscholar.org]

[…] if the genotype is not present) 100%. 2.3 Clinical sensitivity (proportion of positive tests if the disease is present) The clinical sensitivity can be dependent on variable factors such as age or family history. [nature.com]

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]

The neuter βιβλίον biblíon "book" is a diminutive of βίβλος bíblos "book", named after the Phoenician port city of Byblos, also called Gibello, Gibelletto or Jebail, 30 km from present-day Beirut. [bibleous.com]

• Hyperpigmentation

  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]

  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]

• 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]

• 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]

• Papule

  FERMT1 Kindler syndrome AR Diffuse poikiloderma w/striate & reticulate atrophy; widespread eczema-like dermatitis; keratotic papules of hands, feet, elbows, & knees; marked photosensitivity Kindler syndrome is assoc w/skin fragility w/bullae on extremities [ncbi.nlm.nih.gov]

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

Treatment of Manifestations in Individuals with Hereditary Fibrosing Poikiloderma with Tendon Contractures, Myopathy, and Pulmonary Fibrosis Manifestation/ Concern Treatment Considerations/Other Poikiloderma Avoidance of excessive sun exposure Use of [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]

Prenatal—according to our current knowledge based on a few cases only, prenatal testing would be proposed, given the unfavourable evolution of the disease and the poor prognosis inherent to the absence of any efficient treatment. 2. [nature.com]

Prenatal—according to our current knowledge based on a few cases only, prenatal testing would be proposed, given the unfavourable evolution of the disease and the poor prognosis inherent to the absence of any efficient treatment. 2. [nature.com]

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]

[…] follow up of patients with POIKTMP Sébastien Küry, DVM, PhD: FAM111B molecular diagnosis Prof Sandra Mercier and Dr Sébastien Küry are part of the Inserm UMR 1087 / CNRS UMR 6291 research team where functional studies are underway to understand the pathophysiology [ncbi.nlm.nih.gov]

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]

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]

[…] contractures & weakness PT & exercise to promote mobility & prevent contractures Calcium & vitamin D supplements may also be warranted in those w/muscle weakness to prevent osteopenia. [ncbi.nlm.nih.gov]