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Two cases of prolidase deficiency in two siblings are presented. The patients complained of the typical clinical symptoms of the disease, including chronic leg ulcerations resembling vasculitis. They were mentally retarded, had typical facial characteristics, splenomegaly, and haematologic anomalies. Biochemical and morphological investigations con...
Citations
Prolidase deficiency is a rare inborn error of metabolism causing ulcers and other skin disorders, splenomegaly, developmental delay, and recurrent infections. Most of the literature is constituted of isolated case reports. We aim to provide a quantitative description of the natural history of the condition by describing 19 affected individuals and reviewing the literature.
Nineteen patients were phenotyped per local institutional procedures. A systematic review following PRISMA criteria identified 132 articles describing 161 patients. Main outcome analyses were performed for manifestation frequency, diagnostic delay, overall survival, symptom-free survival, and ulcer-free survival.
Our cohort presented a wide variability of severity. Autoimmune disorders were found in 6/19, including Crohn disease, systemic lupus erythematosus, and arthritis. Another immune finding was hemophagocytic lymphohistiocytosis (HLH). Half of published patients were symptomatic by age 4 and had a delayed diagnosis (mean delay 11.6 years). Ulcers were present initially in only 30% of cases, with a median age of onset at 12 years old.
Prolidase deficiency has a broad range of manifestations. Symptoms at onset may be nonspecific, likely contributing to the diagnostic delay. Testing for this disorder should be considered in any child with unexplained autoimmunity, lower extremity ulcers, splenomegaly, or HLH.
Leg ulcers occur commonly and are associated with a decreased quality of life, significant morbidity, and high costs. During recent years, an increasing number of advances in wound-healing research have improved our understanding of the mechanisms of wound healing. Much attention has been focused on growth factors, cell-matrix interactions, and skin substitutes, as well as other areas of research. Yet even though new treatments have emerged, we still lack reliable and effective therapies that have been adequately tested in controlled trials, and chronic leg ulcers remain an enormous clinical problem. Causes of leg ulcers are multiple; venous and arterial disease and neuropathy predominate in the Western world. Infections and hemoglobinopathies are more common in the underdeveloped countries. The patient's history and complete physical examination provide good clues to the diagnosis. Simple noninvasive vascular studies and routine blood tests are often helpful to confirm ulcer etiology; biopsy of the ulcer edges may help in elucidating difficult cases. Successful therapy combines local wound management and treatment of the underlying condition.
Leg ulcers of juvenile onset are uncommon. The injectious origin is fairly frequent but the presence of leg ulcers in children should prompt an investigation into possible underlying causes especially hemangioma, vasculitis, inborn errors of metabolism (i.e. prolidase deficiency), hemoglobinopathies, occult spinal dysraphism and immunodeficiencies. Bacteriological investigations are essentiel and a skin biopsy specimen may be able to differentiate some of these disorders.
Background:
Prolidase Deficiency (PD) is a rare hereditary disease consisting in developmental delay, mental retardation, facial dysmorphism, splenomegaly, recurrent pulmonary infections and skin lesions.
Case report:
The present study reports a case of PD treated in the Paediatric Section of the Department of Dentistry and Surgery at the University of Bari. A special diagnostic and clinical approach to the patient was useful to improve his quality of life and identify some new aspects of this systemic disease. In particular, clinical features never described before are reported: low hair line, decreased osteotendinous reflexes, long upper lip, microrhinia, dentoskeletal Class III, dental age (Proffit) older than chronological age, fusion of 2nd and 3rd cervical vertebrae, incomplete atlanto-occipital fusion.
