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Painless lumps in the proximal interphalangeal joints in tricho‐rhino‐phalangeal syndrome type 1

Tricho-rhino-phalangeal syndrome type 1 (TRPS1) is a rare malformation syndrome involving craniofacial and skeletal abnormalities, first described by Giedion, in 1966. TRPS1 is an autosomal dominant disorder due to a heterozygous mutation in TRPS1 located on chromosome 8q24.12. Most affected individuals, however, are born to normal parents as a result of a de novo mutation (but most cases are sporadic as a result of a new mutation). An 8-year-old Japanese girl was referred to because of painless lumps in the proximal interphalangeal joints (Fig. 1a). The lumps were bony hard, and they were not associated with para-articular soft-tissue swelling or skin redness. She had facial abnormalities, including sparse, slowly growing scalp hair, sparse lateral eyebrows, and bulbous tip of the nose. She had not had a haircut since infancy. Her height was 134 cm, without growth disturbance. Radiograph of the hand showed cone-shaped epiphyses and flared metaphyses of the second to fourth middle phalanges of both hands. Middle phalangeal shortening (brachymesophalangy) due to premature fusion of the growth plates was seen. Ivory epiphyses were noted in the second, third, and fifth distal phalanges. A radiograph of the hip showed a sagging rope sign in the right hip (not shown). These findings led to a diagnosis of TRPS1 (Fig. 1b). On molecular analysis of TRPS1, a novel, heterozygous, de novo, single nucleotide deletion in exon 7 (c.3643delA; p. Thr1215Glnfs*26) was identified. The mutation was not detected in either parent or in 100 healthy Japanese control individuals. Tricho-rhino-phalangeal syndrome type 1 encodes a zinc-finger transcription factor regulating osteocalcin transcription. The TRPS1 mutations cause abnormal maturation of the epiphyses and growth plates, resulting in several skeletal changes, such as phalangeal cone-shaped epiphyses particularly in the middle phalanges, hip joint malformation, and short stature, as well as abnormal nose development and hair growth. The cone-shaped epiphyses give rise to osseous projection of interphalangeal joints, and the radiological classification is Giedion type 12. In general, affected individuals come to medical attention due to growth