Kindler syndrome Q87.1

Author: Prof. Dr. med. Peter Altmeyer

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Last updated on: 22.05.2022

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Synonym(s)

Brain Syndrome; hereditary acrokeratotic poikiloderma type Kindler; Hereditary acrokeratotic poikiloderma type Weary; Hereditary sclerosing poikiloderma; hereditary with sclerotherapy; Marghescu-Brown Falco syndrome; M. Weary-Kindler; OMIM 173650; Poikiloderma; Poikiloderma congenital with blistering; Poikiloderma hereditary acrokeratotic type Kindler; Poikiloderma hereditary acrokeratotic type Weary; Weary-Kindler M.

History
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Brain, 1952; Theresa Kindler, 1954; Weary 1971.

Definition
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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
  • from
  • Kindler type with autosomal recessive inheritance.

Etiopathogenesis
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The molecular pathology of Kindler syndrome is well known. Detection of a "loss of function" mutation of the KIND1 gene (FLJ20116 gene), which is mapped on chromosome 20p12.3 This gene encodes Kindlin-1, a membrane-associated structural protein which is expressed mainly in basal keratinocytes. Kindlin-1 links the actin in the cytoskeleton to the extracellular matrix.

Manifestation
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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).

Localization
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Mainly acral localization. Affected are especially the face, extensor sides of the forearms and lower legs, also upper arms, thighs, trunk.

Clinical features
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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.

Histology
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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 diagnosis
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Therapy
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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.

External glucocorticoids only for eczematization and pruritus such as 0.1% triamcinolone acetonide cream R259. General care of the skin e.g. with Ungt. emulsif. aq.

Important: Consistent light protection

Progression/forecast
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Decrease in blister formation with increasing age. Conspicuous and increasing poikilodermatic, also scleroderma-like picture.

Note(s)
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  • 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.

Literature
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  1. Ashtopn GH (2004) Kindler syndrome. Clin Exp Dermatol 29: 116-121
  2. Binder B et al (2002) Congenital bullous poikiloderma (Kindler syndrome). dermatologist 53: 546-549
  3. Mayet A et al (1991) Congenital Poikilioderma syndrome with early childhood blistering (brain syndrome) and unusual neurological symptoms. dermatologist 42: 315-318
  4. Grau Salvat C et al (1999) Hereditary sclerosing poikiloderma of Weary: report of a new case. Br J Dermatol 140: 366-368
  5. Haas C (2009) Kindler syndrome. A new bullous dermatosis. Dermatologist 60: 622-626
  6. Patrizi A et al (1996) Kindler syndrome: report of a case with ultrastructural study and review of the literature. Pediatric Dermatol 13: 397-402
  7. Penagos H et al (2004) Kindler syndrome in native Americans from Panama: report of 26 cases. Arch Dermatol 140:939-44
  8. Schumann H (2009) Epidermolysis bullosa. dermatologist 60: 614-618
  9. Weary PE et al (1971) Hereditary acrokeratotic poikiloderma. Arch Derm 103: 409-422
  10. Kindler T (1954) Congenital poikiloderma with traumatic bulla formation and progressive cutaneous atrophy. Br J Derm 66: 104-111
  11. Wendenburg WW et al (1992) Brown Falco-Margtzescu syndrome. Congenital poikiloderma with blister formation. Nude Dermatol 18: 141-144

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Please ask your physician for a reliable diagnosis. This website is only meant as a reference.

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Last updated on: 22.05.2022