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Hajdu-Cheney syndrome (HCS) is a rare disorder which is characterized by developmental delay, craniofacial anomalies, congenital heart defects, hearing deficit, polycystic kidneys, and bone abnormalities, including progressive osteoporosis, acroosteolysis, wormian bones, and abnormal bone fractures.
At 1 year old, he presented with the symptoms of acroosteolysis which was not taken seriously.
No acroosteolysis or brachydactyly of hands was observed [Figure 1]e.
Haim-Munk syndrome also exhibits arachnodactyly, acroosteolysis, atrophy of nails, and deformity of the phalanges in the hands.
These are easily remembered by the PORKCHOPS mnemonic (9): P-Pyknodysostosis, O-Osteogenesis Imperfecta, R-Rickets, K-Kinky Hair Syndrome, C-Cleidocranial Dysostosis, H-Hypothyroidism/Hypophosphatasia, O-Otopalatodigital Syndrome, P-Primary Acroosteolysis, S-Syndrome of Downs.
It is characterized clinically by palmo-plantar keratoderma (PPK), aggressive early onset of periodontitis, onychogryphosis, arachnodactyly, acroosteolysis and pes planus.
11), (12) Our patient had neither erosive lesions nor acroosteolysis in the affected bones and joints.
This may be complicated by secondary bacterial infection, gangrene, and acroosteolysis, leading to articular deformities and dissolution of terminal phalanges (FIGURE 5).
6) Acroosteolysis, seen in up to 80% of scleroderma patients, occurs in both limited and diffuse cases, and is basically the absorption of the distal phalangeal tuft.
Complications like respiratory distress due to laryngeal leucokeratosis and acroosteolysis, malignant changes in palmoplantar lesions can occur in pachyonychia congenital.
In our patient, an X-ray of his hand showed acroosteolysis, and a routine hemogram was suggestive of hemolytic anemia.