Diagnostic Considerations
Because of the overlapping clinical features, the differential diagnosis of Kindler syndrome consists primarily of inherited blistering diseases and congenital poikilodermas with photosensitivity. The lack of specific features in early childhood often leads to difficulty or delay in diagnosis.
Congenital bullous diseases
In the newborn period, Kindler syndrome may be difficult to differentiate from variants of epidermolysis bullosa. Progressive improvement of photosensitivity and blistering, followed by the appearance of poikiloderma and cutaneous atrophy with age, help confirm a diagnosis of Kindler syndrome. [6]
Congenital poikilodermas and photosensitivity disorders
Rothmund-Thompson syndrome has poikiloderma and photosensitivity similar to those observed in Kindler syndrome, but it is also accompanied by short stature, sparse hair, hypogonadism, and cataracts, which are not features of Kindler syndrome.
Photosensitivity disorders related to defective DNA repair
Several photosensitivity disorders related to defective DNA repair share cutaneous findings with Kindler syndrome.
Xeroderma pigmentosum is an autosomal recessive genodermatosis characterized by photosensitivity and poikilodermatous changes in sun-exposed areas. However, patients typically do not have acral bullae. In addition, patients with xeroderma pigmentosum experience early-onset skin cancers and multiple neurologic abnormalities.
Bloom syndrome is characterized by telangiectasia and light sensitivity with erythema on the face and other sun-exposed areas, but not true poikiloderma. Short stature, recurrent infections, and increased frequency of hematological malignancies are also present.
Patients with Cockayne syndrome develop photodistributed erythema, atrophy, and hyperpigmentation. The associated features of dwarfism, cachexia, progressive pigmentary retinopathy, deafness, and birdlike facies differentiate Cockayne syndrome from Kindler syndrome.
Dyskeratosis congenita is a rare genodermatosis characterized by the triad of reticulated hyperpigmentation, nail dystrophy, and leukoplakia. Unlike in Kindler syndrome, the pigmentary changes are not truly poikilodermatous and bullae are not a prominent feature.
Hereditary sclerosing poikiloderma described by Weary in 1969 is an autosomal dominant disease characterized by progressive poikiloderma in flexural areas, sclerotic bands, poor dentition, and, occasionally, calcinosis. Absence of bullae and photosensitivity clearly distinguish it from Kindler genodermatosis. However, in 1971, Weary et al described a large kindred of patients with widespread eczematous dermatitis, acral bullae in infancy, keratoses, and gradual appearance of diffuse poikiloderma. Several authors have noted the similarity of these patients to the original case described by Theresa Kindler, and some believe that Weary and Kindler syndromes are variants of the same disorder.
Differential Diagnoses
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Images show the progression of lesions. A and B: At birth, acral blisters and erosions are present. C and D: At age 5 years, atrophy and reticulated erythema with dyschromic patches are noted. E and F: At age 7 years, progressive poikilodermatous changes with reticulated erythema and telangiectasia occur. G and H: At age 10 and 15 years, poikiloderma with telangiectasia and depigmentation are observed. Excoriations are due to pruritus. Reprinted from Yasukawa K, Sato-Matsumura KC, McMillan J, et al: Exclusion of COL7A1 mutation in Kindler syndrome. J Am Acad Dermatol 2002 Mar; 46(3): 447-50. Courtesy of the American Academy of Dermatology.
