HistoryThis section has been translated automatically.
Brain, 1952; Theresa Kindler, 1954; Weary 1971.
DefinitionThis section has been translated automatically.
Autosomal recessive inherited, fourth, independent form of the hereditary epidermolysis bullosa group. Very rare poikilodermic clinical picture with "variable" blister formation (intraepidermal in the basal keratinocytes, junctional, dermal). The syndrome is caused by a mutation in the FERMT1 gene (gene locus: 20p12.3), which codes for the Kindler protein.
Some authors separate:
- Weary type with autosomal dominant inheritance
- Kindler type with autosomal recessive inheritance.
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EtiopathogenesisThis section has been translated automatically.
ManifestationThis section has been translated automatically.
Especially girls. Blisters: Usually from birth or a few months later. Poikiloderma: Until the age of 4. The formation of blisters decreases with age.
An increased rate of disease is found in the Ngöbe - Bugle Indians. The Ngöbe-Bugle are an ethnic minority of the Chibcha, who have settled in the province of Chiriqui (province in Panama).
LocalizationThis section has been translated automatically.
Clinical featuresThis section has been translated automatically.
Integument: Blistering manifest from birth with developing poikiloderma. Spontaneous or post-traumatic subepidermal blisters, poikiloderma in mentioned localization (picture resembles systemic scleroderma), photosensitivity, verrucous hyperkeratosis of palmae, synechiae on fingers and toes, resulting in a pseudosyndactyly clinical picture with poikiloderma. Mostly nail dystrophies and hypotrichosis.
Oral mucosa is fragile and bleeds easily. Many patients develop marked gingivitis.
No oral leukoplakia and no cataract.
Aggressive squamous cell carcinoma of the skin and/or mucous membranes is a serious complication.
Other associated symptoms: dental anomalies, skeletal malformations, proportioned short stature; esophageal stenosis, urethral strictures.
HistologyThis section has been translated automatically.
Subepidermal blisters, fibrinoid corpuscles below the dermoepidermal basement membrane zone.
Electron microscopic: reduplications of the basal lamina, fine fibrillar cell-sized corpuscles in the papillary body.
Differential diagnosisThis section has been translated automatically.
TherapyThis section has been translated automatically.
Symptomatic. Avoid mechanical irritation and irritation to reduce blister formation and monitor and treat secondary infections.
Drying and antiseptic solutions such as quinolinol solution(1:1000), R042 or potassium permanganate solution(light pink). S.a.u. Wound treatment. Adequate fluid replacement. Sterile lancing and draining of blisters prevents expansion and relieves pressure. The bladder roof should be left in place to protect against infection.
Important: Consistent light protection
Progression/forecastThis section has been translated automatically.
Decrease in blister formation with increasing age. Conspicuous and increasing poikilodermatic, also scleroderma-like picture.
Note(s)This section has been translated automatically.
- S.a. Hereditary sclerosing poikiloderma
- First experimental approaches exist to restore the structure of the skin and other important physiological functions by repairing the known mutation.
LiteratureThis section has been translated automatically.
- Ashtopn GH (2004) Kindler syndrome. Clin Exp Dermatol 29: 116-121
- Binder B et al (2002) Congenital bullous poikiloderma (Kindler syndrome). dermatologist 53: 546-549
- Mayet A et al (1991) Congenital Poikilioderma syndrome with early childhood blistering (brain syndrome) and unusual neurological symptoms. dermatologist 42: 315-318
- Grau Salvat C et al (1999) Hereditary sclerosing poikiloderma of Weary: report of a new case. Br J Dermatol 140: 366-368
- Haas C (2009) Kindler syndrome. A new bullous dermatosis. Dermatologist 60: 622-626
- Patrizi A et al (1996) Kindler syndrome: report of a case with ultrastructural study and review of the literature. Pediatric Dermatol 13: 397-402
- Penagos H et al (2004) Kindler syndrome in native Americans from Panama: report of 26 cases. Arch Dermatol 140:939-44
- Schumann H (2009) Epidermolysis bullosa. dermatologist 60: 614-618
- Weary PE et al (1971) Hereditary acrokeratotic poikiloderma. Arch Derm 103: 409-422
- Kindler T (1954) Congenital poikiloderma with traumatic bulla formation and progressive cutaneous atrophy. Br J Derm 66: 104-111
- Wendenburg WW et al (1992) Brown Falco-Margtzescu syndrome. Congenital poikiloderma with blister formation. Nude Dermatol 18: 141-144
Incoming links (11)Brain syndrome; Dental diseases, skin changes; FERMT1 Gene; Marghescu-brown falco syndrome; PID; Poikiloderma, hereditary acrokeratotic, kindler type; Poikiloderma, hereditary acrokeratotic, type weary; Poikiloderma, hereditary with sclerotherapy; Reticular hyperpigmentations; Thomson syndrome; ... Show all
Outgoing links (11)Cytoskeleton; Dyskeratosis congenita; Epidermolysis bullosa hereditaria (overview); FERMT1 Gene; Glucorticosteroids topical; Hyperkeratoses; Poikiloderma, hereditary with sclerotherapy; Potassium permanganate; Pruritus; Triamcinolone acetonide cream hydrophilic 0,025/0,05/0,1% (nrf 11.38.); ... Show all
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