We describe here 3 patients with ichthyosis with confetti who have recurrent splice-site variant in KRT10.A 47-yr-old woman presented with history of ichthyosis from birth. With ageing, several pale macules had developed on her trunk and limbs, suggesting IWC.She had severe palmoplantar keratoderma.At age 24 years, she had malignant melanoma (MM) in situ on dorsal side of right little finger. She underwent amputation of right little finger following local recurrence 3 years after initial resection surgery.At age 40 years, she noticed irregular black nodule on right thigh.Histol., atypical melanocytes of various sizes were found in rete ridges of epidermis.Immunohistochem. analyses showed these melanocytes to be pos. for anti-HMB45 and weakly pos. for anti-S100 antibodies.Case 2. A 16-yr-old boy exhibited redness and generalized skin scaling over entire body since soon after birth. Examination revealed mild diffuse scaly erythema on trunk and extremities.A skin biopsy specimen from his right lower leg showed marked hyperkeratosis with parakeratosis.With increasing age, several pale macules developed on his trunk and thighs.Histol., orthokeratosis was seen in pale macule.Case 3. An 8-yr-old girl presented with diffuse redness and scaling, which had appeared all over her skin during infancy.In conclusion, this study identified a recurrent splice site variant, c.1373+2T>C, in KRT10 in 3 unrelated Japanese subjects with IWC, which causes a premature termination codon variant and nuclear K10 staining in epidermal keratinocytes. Patients with IWC may also be at greater risk of developing skin malignancy.
