Poikiloderma of Kindler

A hereditary, autosomal recessive form of epidermolysis bullosa.. It is characterized by congenital blistering, skin atrophy, photosensitivity, skin fragility, and scaling; periodontal disease may also occur. Mutations in the KIND1 gene have been identified. OMIM: 173650

Also Known As:

Networked: 48 relevant articles (1 outcomes, 4 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Epidermolysis Bullosa
2.	Inborn Genetic Diseases (Disease, Hereditary)
3.	Squamous Cell Carcinoma (Epidermoid Carcinoma)
4.	Blister (Bulla)
5.	Atrophy

Experts

1.	McGrath, John A: 6 articles (01/2019 - 07/2003)
2.	Has, Cristina: 6 articles (06/2017 - 01/2004)
3.	Wu, Chuanyue: 4 articles (01/2017 - 05/2008)
4.	Bruckner-Tuderman, Leena: 4 articles (12/2016 - 01/2004)
5.	He, Yinghong: 3 articles (06/2017 - 01/2016)
6.	Bruckner-Tuderman, L: 3 articles (09/2015 - 12/2007)
7.	Has, C: 3 articles (09/2015 - 12/2007)
8.	Zambruno, Giovanna: 3 articles (01/2013 - 01/2004)
9.	South, Andrew P: 3 articles (10/2009 - 07/2003)
10.	McGrath, J A: 3 articles (02/2009 - 05/2005)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Poikiloderma of Kindler:

1.	Proteins (Proteins, Gene)FDA Link 05/01/2021 - "There are Kindler syndrome with FERMT1 frameshift mutation in exon 4, at c.388A (p.I130fs), which causes truncated protein; junctional EB generalized intermediate (JEB-GI) subtype with missense mutation at LAMB3 gene position c.A962C (p.H321P); and recessive dystrophic EB (RDEB) a missense mutation at COL7A1 gene position c.G5000T (p.G1667V). " 05/01/2015 - "Kindler syndrome protein Kindlin-1 is mainly expressed in adult tissues originating from ectoderm/endoderm." 01/01/2012 - "The role played by the abnormal protein in epithelial integrity suggests that ocular and more particularly corneal involvement is not rare in Kindler syndrome. " 01/01/2010 - "Kindler syndrome is caused by genetic defects in the focal contact-associated protein, fermitin family homologue 1 (FFH1), encoded by the gene FERMT1 (known as KIND1). " 02/01/2009 - "The molecular pathology of Kindler syndrome involves loss-of-function mutations in a newly recognized actin cytoskeleton-associated protein, now known as fermitin family homologue 1, encoded by the gene FERMT1. "
2.	Nonsense Codon (Nonsense Mutation)IBA 05/01/2023 - "Genetic Diagnosis of Kindler Syndrome, a Rare form of Genodermatosis in a Newborn with Identification of a Nonsense Mutation, c. " 06/01/2016 - "A Novel Nonsense Mutation in Exon 5 of KIND1 Gene in an Iranian Family with Kindler Syndrome." 05/01/2005 - "An Indian child with Kindler syndrome resulting from a new homozygous nonsense mutation (C468X) in the KIND1 gene." 01/01/2004 - "A novel nonsense mutation in Kindler syndrome." 06/01/2016 - "This study suggests that nonsense mutation may lead to incomplete and non-functional protein products and is pathogenic and has meaningful implications for the diagnosis of patients with Kindler syndrome."
3.	Epidermal Growth Factor (EGF)IBA 01/01/2019 - "In this study we show that skin and keratinocytes from Kindler syndrome patients have significantly reduced expression levels of the EGFR, resulting in defective EGF-dependent signaling and cell migration. "
4.	IntegrinsIBA 01/01/2019 - "Most cases of Kindler syndrome show a reduction or complete absence of kindlin-1 in keratinocytes, resulting in defective integrin activation, cell adhesion, and migration. " 01/01/2017 - "Collectively, the structural, biochemical, and cellular results provide mechanistic explanations that account for the effects of kindlins on integrin activation as well as for how kindlin mutations found in patients with Kindler syndrome and leukocyte-adhesion deficiency may impact integrin-mediated processes." 01/01/2013 - "Loss-of-function mutations in the gene encoding the integrin co-activator kindlin-1 cause Kindler syndrome. " 10/01/2009 - "Loss-of-function FERMT1 mutations in kindler syndrome implicate a role for fermitin family homolog-1 in integrin activation." 12/01/2008 - "Loss of kindlins causes severe defects in integrin signalling, cell-ECM adhesion and cytoskeletal organization, resulting in early embryonic lethality (kindlin-2), postnatal lethality (kindlin-3) and Kindler syndrome (kindlin-1). "
5.	Collagen Type VIIIBA 01/01/1999 - "Our results suggest that Kindler syndrome is associated with abnormalities in the construction of the basement membrane, especially in the expression of type VII collagen. " 01/01/1999 - "Abnormal deposition of type VII collagen in Kindler syndrome." 09/01/1997 - "These results suggest that the bullous component of Kindler syndrome is distinct from dystrophic epidermolysis bullosa caused by mutations in the type VII collagen gene. "
6.	Keratins (Keratin)IBA 07/01/2003 - "Thus, Kindler syndrome is, to our knowledge, the first skin fragility disorder caused by a defect in actin-ECM linkage, rather than keratin-ECM linkage." 03/01/2004 - "Thus, Kindler syndrome is the first genodermatosis caused by a defect in actin-extracellular matrix linkage rather than the classic keratin-extracellular matrix linkage underlying the pathology of other inherited skin fragility disorders such as epidermolysis bullosa. "
7.	DNA (Deoxyribonucleic Acid)IBA 11/01/2013 - "The diagnosis of Kindler syndrome was confirmed by DNA sequencing with compound heterozygosity for a nonsense/frameshift combination of mutations (p.Arg110X; p.Ala289GlyfsX7) in the FERMT1 gene. " 05/01/2005 - "We report the clinical features of an 11-year-old boy with Kindler syndrome from a consanguineous Indian family and the identification of a homozygous nonsense mutation (C468X) in exon 12 of the KIND1 gene in his genomic DNA. "
8.	CollagenIBA 10/01/2009 - "We identified altered distribution of several basement membrane proteins, including types IV, VII, and XVII collagens and laminin-332 in Kindler syndrome skin. " 06/01/2021 - "Immunofluorescence antigen mapping demonstrated a broad reticulate pattern of staining with collagen IV, VII, and laminin 332 in the floor of the blister, suggestive of Kindler syndrome. "
9.	Collagen Type XVIIIBA 03/01/2014 - "The paper in this issue by Has and co-workers reports 15 non-Herlitz epidermolysis bullosa patients with the same single amino-acid substitution in collagen XVII, all of whom presented with clinical and pathological features resembling Kindler syndrome. " 03/01/2014 - "The missense mutation p.R1303Q in type XVII collagen underlies junctional epidermolysis bullosa resembling Kindler syndrome."
10.	TetraspaninsIBA 01/01/2018 - "Recessive mutation in tetraspanin CD151 causes Kindler syndrome-like epidermolysis bullosa with multi-systemic manifestations including nephropathy."

Therapies and Procedures

1.	Radiotherapy 11/01/2016 - "The efficacy of radiotherapy along with multidisciplinary actions allowed treatment continuity, leading to a complete control of the lesion and life quality improvement and showed that the use of radiotherapy on Kindler syndrome patients is possible. " 11/01/2016 - "In this study, we report clinical outcomes and care provided for a rare case of a Kindler syndrome patient submitted to radiotherapy. " 11/01/2016 - "Thus, cases reporting Kindler syndrome patients treated with radiotherapy are rare. " 11/01/2016 - "A Kindler syndrome-associated squamous cell carcinoma treated with radiotherapy." 06/01/2001 - "Kindler syndrome complicated by squamous cell carcinoma of the hard palate: successful treatment with high-dose radiation therapy and granulocyte-macrophage colony-stimulating factor."
2.	Therapeutics 01/01/2016 - "The study of this hypomorphic mutation provides evidence that low amounts of kindlin-1 are sufficient to improve the epidermal architecture and Kindler syndrome cellular phenotype and proposes a personalized chaperone therapy for the patient." 02/01/2018 - "Clinicians should be aware of the potential complications of this disease, and the approach by balloon dilation should be considered as primary therapy in Kindler syndrome patients with esophageal web." 01/01/2021 - "Periodontitis in Kindler Syndrome responds to maintenance therapy, but the absence of surveillance is penalized by a deterioration in periodontal condition and complication of management. " 05/01/2008 - "Periodontitis in Kindler syndrome responds to maintenance therapy, but the gingiva and oral mucosa continue to display an abnormal appearance with white patches. "
3.	Prenatal Care (Care, Prenatal) 01/01/2007 - "A 37-year-old woman with Kindler syndrome received prenatal care at our hospital. "