Year : 2007 | Volume
: 52 | Issue : 1 | Page : 53--55
Qazi Masood, Taseer Ahmed Bhatt, Iffat Hassan, Farah Sameen, Sabiya Majid
Department of Dermatology, STD, Leprosy and Biochemistry, Govt. Medical College, Srinagar, India
Taseer Ahmed Bhatt
R/O:-Shabeer Manzil, Rajbagh Extension, Srinagar, Kashmir - 190 008 (J and K)
Prolidase deficiency is a rare inborn disorder of collagen metabolism characterized by chronic recurrent skin ulceration. A seven-year-old girl and her younger sibling with clinical features and laboratory criteria fulfilling the diagnosis of prolidase deficiency are presented in view of rarity of the condition.
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Masood Q, Bhatt TA, Hassan I, Sameen F, Majid S. Prolidase deficiency.Indian J Dermatol 2007;52:53-55
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Masood Q, Bhatt TA, Hassan I, Sameen F, Majid S. Prolidase deficiency. Indian J Dermatol [serial online] 2007 [cited 2021 Jan 25 ];52:53-55
Available from: https://www.e-ijd.org/text.asp?2007/52/1/53/31927
Prolidase deficiency is a rare disorder inherited through an autosomal recessive gene. The hallmark of this disorder is the presence of characteristic face with saddle nose, mental retardation and chronic recurrent cutaneous ulcers that are recalcitrant in healing. The ulcers result from impaired recycling of proline which constitute 20% of amino acid in collagen and is important for tissue repair. Others features that are seen include frequent infections, partial deafness, visual disturbances and joint dislocation.
A seven-year-old female child born of a full term normal delivery to 2nd degree consanguineous parentage presented to our outpatient department with the history of recurrent painful ulceration of the lower legs of 18 months duration. It used to begin as a pruritic pustular lesions on the lower legs, followed later by ulcer formation. The ulcers used to persist for many months with no consistent response to antibiotics and used to heal with atrophic scarring. Other features seen in the patient were mental retardation, failure to thrive and recurrent ear discharge from the last four years. There was no clinical evidence suggestive of Hansen's disease, collagen vascular disorders or of hemolytic anemia. One of her younger siblings had similar episodes of ulcerations of lower legs followed by scarring.
On physical examination, she was 110 cm in height and weighed only 17 kgs, which was below the 3rd percentile for her age. She had atypical facies with saddle nose, hyperteleorism, high arched palate, malaligned teeth, with multiple atrophic macules and linear teleangectasias on the malar area of the face [Figure 1]. The most striking feature was extensive deep ulcers on the lower legs with atrophic scars in the surrounding skin. The ulcers were deep with ragged margins and floor of the ulcer was covered by yellowish crust [Figure 2],[Figure 3]. The ulcer was not fixed to the underlying tissues. The inguinal lymph nodes were not significantly enlarged. There were multiple hyperpigmented small atrophic macules on the extensor portions of the extremities and on the hips. Mat-like telangectasia were seen on the knees and lower legs. There was no evidence of varicosities and peripheral pulses were normal.
The systemic examination revealed no abnormal findings except for a mild splenomegaly. Her ophthalomological examination was normal.
Her routine laboratory investigation, collagen vascular profile and porphyrin profile were all normal. The histopathological examination of the skin showed nonspecific inflammatory changes and the direct immunoflourescence was negative. The culture of the ulcer did not show any microbial growth. Thin layer chromatography of her overnight urine revealed a marked increase in diimminopeptides after gelatin loading indicating the possibility of prolidase enzyme deficiency [Figure 4]. Her younger sibling was also investigated with identical findings on thin layer chromatography. Prolidase enzyme activity was assayed colorimetrically using the substrate glycylproline and chinnard reaction. It was found to be only 12% and 28% in the patient and her younger sibling respectively in comparison to the normal healthy controls.
Prolidase deficiency is a rare metabolic disorder of autosomal recessive inheritance. Goodman in 1968 was the first to describe this condition in a male patient who had mental subnormality and characteristic recalcitrant ulcers on the lower legs. The enzyme prolidase is widely distributed throughout the body and is important in recycling of proline and hydroxyproline which constitute about one quarter of the collagen. The deficiency of this enzyme is responsible for massive loss of proline in the urine which is estimated to be as high as 3 gm per day. The prolidase enzyme can be assayed in the erythrocytes, leucocytes and the fibroblasts and have been found to be undetectable in the patients with prolidase enzyme deficiency.
These patients are mentally subnormal and are of short stature. They have peculiar facies such as saddle nose, hypertelorism, narrowed eyes and hypoplasia of the jaws. Among the clinical presentation, the most striking manifestation is the skin fragility with leg ulceration and characteristic pitted scarring. The other cutaneous changes seen include photosensitivity, purpura, telengectasia, dry crusted lesions on the face and buttocks; dry fissured erythematous palms and soles. They also suffer from recurrent infections such as otitis media, respiratory tract infections and sinusitis. In addition, other features reported are simian crease, wasting of the small muscles of hand, talipes equines, osteoporosis, hyperextensibility of joints, deafness, corneal opacities, ambylopia, optic atrophic, splenomegaly and protuberant abdomen. The diagnosis is ascertained by iminopeptiduria greater than 5 mmol/24h. The predominant peptide is glyclproline. A characteristic feature of the disorder is absolute resistance to all forms of treatment including rejection of skin grafts. The treatment modalities which seemed to be helpful include dapsone, diphenylhydantoin, ascorbic acid and manganese. The topical application of ointment containing 5% glycine and 5% proline was found to be effective in number of trials. Enzyme replacement has been tried by blood transfusion containing manganese activated prolidase enzyme. Pulsed corticosteroid treatment also showed good results and act by inhibiting iminodipeptide primed neutrophil superoxide generation. Therapeutic apheresis exchange was successful in two patients.
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