KINDLER SYNDROME

By Gary M. White, MD


Kindler syndrome (KD) is a rare form of epidermolysis bullosa with autosomal recessive inheritance. In addition to skin fragility and blistering, the patient suffers from photosensitivity and poikiloderma. A loss of function mutation in the KIND1 gene, which has been localized to the short arm of chromosome 20, is causative.

Clinical

Onset is just after birth with traumatic blistering (heals without scarring), skin fragility, progressive poikiloderma, and photosensitivity (improves with age). Acral atrophy of the skin in an infant with signs of EB may suggest the diagnosis. Rare cases of aggressive squamous cell carcinoma may occur. Mucosal manifestations are also common and include hemorrhagic mucositis and gingivitis, periodontal disease, premature loss of teeth, and labial leukokeratosis.

Differential Diagnosis

Dwarfism, deafness, progressive pigmented retinopathy, and bird-like facies occurs in Cockayne syndrome. Hypogonadism, sparse hair, and mental retardation would suggest Rothmund-Thompson syndrome. Cutaneous malignancies and neurologic problems would suggest xeroderma pigmentosum. Bloom syndrome does not show true poikiloderma. Finally, leukoplakia, nail dystrophy, and reticulated hyperpigmentation is associated with dyskeratosis congenita.

Treatment

There is no specific therapy. The patient may be advised to use emollients and sunscreen as well as avoid trauma.

References

Dermatology Online Journal 9(3)

A 13-year-old boy, born of consanguineous parentage (first cousins), with severe oral ulceration, halitosis, and a history of intolerance to sunlight. There was a history of repeated blistering, mainly involving the dorsum of the hands almost since his birth; the blistering tendency gradually subsiding with age. He also had a history of occasional gum bleeding. His younger brother was also affected by the same illness, but their only sister had been spared. Indian J of Dermatology

A 12-year-old Chinese boy presented with recurrent blistering after mild trauma from the age of 1 year. Physical examination revealed generalized skin atrophy with some scattered resolving blisters on the extremities and poikiloderma on the face and neck. He has also suffered from pruritus and photosensitivity. Ann Dermatol. 2016 Aug; 28(4): 503–505.

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