Kindler syndrome in two related Kurdish families

Abstract

We describe a 19-year-old girl with Kindler syndrome. She has suffered from bullae on pressure areas of the skin since birth. These healed with atrophic scars and caused marked atrophy of the skin of the palms and soles and wrinkled and parchment-like skin of the dorsum of the hands and feet. Since infancy the patient has also suffered from severe photosensitivity on exposed areas and developed poikiloderma on the skin of her face, neck, chest, and upper back. Since age 17 years the patient has been free of bullae but moderate photosensitivity exists. Oral examination showed limitation of mouth opening, ankyloglossia, overjet malocclusions, and atrophy of buccal mucosa with widespread white macules. Results of laboratory tests were within normal limits. The proposita's parents (family 1) are Jews of Kurdish origin and first cousins. She is the only one affected among five siblings. Family 1 is related to a second family (family 2) through a common great-grandfather. The parents of family 2 are first cousins and they have three affected children. An autosomal recessive mode of inheritance of Kindler syndrome is suggested in these two related families.

Kindler syndrome: a focal adhesion genodermatosis

“…9 In 1985, an autosomal recessive pedigree that most closely resembled the original Kindler case was published. 10 Subsequent reports have tended to separate autosomal recessive KS from autosomal dominant Weary syndrome although there has been considerable confusion in establishing distinct clinical entities. Nevertheless, the molecular characterization of some overlapping clinical disorders, such as dystrophic EB caused by pathogenic mutations in the COL7A1 gene, 11 Rothmund-Thomson syndrome caused by mutations in the RECQL4 gene 12 and EB with mottled pigmentation due to mutations in the KRT5 gene 13 has shown that KS is likely to represent a specific genodermatosis.…”

Oral Health Care for Patients with Epidermolysis Bullosa ‐ Best Clinical Practice Guidelines

“…Only few case reports of patients with Kindler syndrome describe their oral features 34,[85][86][87][88][89][90] . The evidence suggests that patients with Kindler syndrome can present with fragile mucosa, microstomia, and partial vestibule obliteration, although microstomia was not identified in all patients with Kindler syndrome 34,85,86 .…”

Kindler surprise: mutations in a novel actin-associated protein cause Kindler syndrome

“…Several other features have been reported which vary between cases including: digital webbing; palmoplantar keratoderma; nail dystrophy; alopecia; oesophageal, anal, vaginal and urethral stenosis; loss of dermatoglyphics; and phimosis [1,3,[5][6][7]. A wide range of oral manifestations of the syndrome have also been described including mucosal white patches, atrophy and blistering; gingival bleeding and severe periodontitis; ankyloglossia; restricted mouth opening; and malocclusion [1,2,[6][7][8][9].…”

“…features of two previously described conditions, epidermolysis bullosa hereditaria and poikiloderma congenitale. The characteristic clinical features are acral blistering and photosensitivity in infancy followed by progressive poikiloderma (diffuse cutaneous atrophy, telangiectases and reticulate pigmentation) later in life [1,2]. Blistering may be spontaneous or traumatic and usually resolves with age, although there is one reported case where bullae recurred in the fifth decade [3].…”