Article
A rare cause for distal bone resorption of the fingers and drumstick deformity. The Hajdu-Cheney syndrome
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Authors
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Isidro Jiménez
- Hospital Universitario Insular de Gran Canaria, Las Palmas de Gran Canaria, Spain
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Gustavo Muratore
- Hospital Universitario Insular de Gran Canaria, Las Palmas de Gran Canaria, Spain
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Jonathan Caballero
- Hospital Universitario Insular de Gran Canaria, Las Palmas de Gran Canaria, Spain
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Jesús A. Rodríguez-Socorro
- Hospital Universitario Insular de Gran Canaria, Las Palmas de Gran Canaria, Spain
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Eduardo Morales-Mata
- Hospital Universitario Insular de Gran Canaria, Las Palmas de Gran Canaria, Spain
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Alberto Marcos-García
- Hospital Universitario Insular de Gran Canaria, Las Palmas de Gran Canaria, Spain
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José Medina
- Hospital Universitario Insular de Gran Canaria, Las Palmas de Gran Canaria, Spain
| Published: | February 6, 2020 |
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Outline
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Objectives/Interrogation: Hajdu-Cheney syndrome is an extremely rare hereditary connective tissue disease described in 1948. It is characterized by craniofacial deformities, dental deformity, hyperlaxity, osteoporosis, and acro-osteolysis. The importance from the Orthopedic and Hand Surgeon view lies in the fact that the main cause of consultation usually is a progressive digital shortening, so that the knowledge of the disease can help to avoid complications derived from osteoporosis and to adequately refer the patient for treatment of other systemic injuries that may be present.
We report a family in which three members of three successive generations are affected by the disease.
Methods: A 64-year-old woman was referred for consultation due to progressive shortening of the fingers and wrinkling of the skin. She measures 139 cm and weighs 43 kg. She has a widened face, micrognathia, thin lips, low set ears and a short neck. Her fingers are short, with drumstick appearance and there seems to be skin left over mainly on the dorsum. X-rays showed normal metacarpals, normal proximal phalanges in long fingers but with osteolytic lesions in the thumbs, middle phalanges reduced to the proximal third (except in the fourth finger of her left hand) and distal phalanges reduced to a small distal bone stump. Her 35-year-old daughter presents distal bone resorption in the distal phalanx of all the long fingers and the distal phalanx of the thumbs. And the 6-year-old grandson already has a mild bone resorption of distal phalanges of all the fingers.
Results and Conclusions: In this case, a decrease in bone mass was confirmed by bone densitometry and antiresorptive treatment was established with adequate evolution.
In conclusion, Hajdu-Cheney syndrome does not seem to diminish life expectancy, although it is associated with renal, cardiac and neurological complications. Preventive treatment of bone lesions is not known and its treatment is symptomatic trying to avoid the complications derived from the loss of bone mass. We believe that knowing the disease may be useful for the differential diagnosis of acro-osteolysis and for its multidisciplinary approach.
