Refractory leg ulcers in prolidase deficiency with antiphospholipid antibody positivity responding to aspirin‐hydroxychloroquine‐vitamin C combination therapy

T, Muhammed Razmi; Jindal, Ankur Kumar; Arora, Kanika; Joshi, Vibhu; Suri, Deepti; De, Dipankar

doi:10.1111/dth.14156

Cited by 3 publications

(6 citation statements)

References 9 publications

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“…3,5 Several cases of systemic lupus erythematosus have been reported in association with PD. 5,8,9 Dysmorphic facial features, although not a constant finding, are frequently reported. [3][4][5] Neurologic manifestations include intellectual disability in 75%, developmental delays, and white matter microthrombi on brain MRI.…”

Section: Discussionmentioning

confidence: 99%

“…5 Laboratory findings are not universal, but a characteristic of this disease is massive imidodipeptiduria (10-30 mmol/d). 5 Other disturbances may include mild thrombocytopenia, elevated liver enzymes, hypocomplementemia, elevated immunoglobulin E levels, 5,8,9 and mild anemia, which can be either microcytic or normocytic with reports of hemolysis. 5,8,9 There are two possible ways to confirm the diagnosis of PD.…”

Section: Discussionmentioning

confidence: 99%

“…5 Other disturbances may include mild thrombocytopenia, elevated liver enzymes, hypocomplementemia, elevated immunoglobulin E levels, 5,8,9 and mild anemia, which can be either microcytic or normocytic with reports of hemolysis. 5,8,9 There are two possible ways to confirm the diagnosis of PD. 4,5 The first depends on the combination of elevated imidodipeptides in the urine and a low prolidase activity in erythrocytes, leukocytes, or cultured fibroblasts (ranges from none to less than 10% in affected individuals).…”

Section: Discussionmentioning

confidence: 99%

“…6 Another case associated with antiphospholipid syndrome was successfully treated with a combination of aspirin, oral vitamin C, and hydroxychloroquine, supporting a potential role of vasculopathy in the pathogenesis of PD. 8 Recently, anticoagulant treatment with enoxaparin yielded promising results, which the authors attributed to the inhibition of prolidase proteolysis by enoxaparin. 7…”

Section: Discussionmentioning

confidence: 99%

“…Other skin findings may include telangiectasia of the face and hands, eczema-like lesions, lymphedema, premature graying of hair, and phototoxicity 3,5 . Several cases of systemic lupus erythematosus have been reported in association with PD 5,8,9 . Dysmorphic facial features, although not a constant finding, are frequently reported 3–5 …”

Section: Discussionmentioning

confidence: 99%

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Prolidase Deficiency Causing Recalcitrant Leg Ulcerations in Siblings

Hajjar¹,

Kabbani²,

Tannous³

et al. 2021

Adv Skin Wound Care

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Prolidase deficiency (PD) is a rare autosomal recessive genodermatosis with variable clinical manifestations. It results from a mutation in the peptidase-D gene that leads to abnormal activity of the prolidase enzyme, an important player in collagen catabolism. The authors report the case of two siblings presenting with dysmorphic features, disturbed blood panel, and recalcitrant leg ulcerations of several years’ duration. Sequencing of the 15 exons and of the intron/exon junction regions of the peptidase-D gene revealed the presence of a homozygous pathogenic variant c.549-1G > A. An ointment with 5% proline and 5% glycine was compounded, and the patients were instructed to apply it once daily. A follow-up visit after 8 months revealed partial improvement of the ulcerations starting from the third month of treatment. These authors hope this case report sheds light on this disease and recommend it be incorporated into the differential diagnoses of chronic leg ulcerations, particularly those starting at a young age.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

See 3 more Smart Citations

Prolidase Deficiency Causing Recalcitrant Leg Ulcerations in Siblings

Hajjar¹,

Kabbani²,

Tannous³

et al. 2021

Adv Skin Wound Care

View full text Add to dashboard Cite

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Quantitative analysis of the natural history of prolidase deficiency: description of 17 families and systematic review of published cases

Rossignol

Moreno

Benoist

et al. 2021

Genetics in Medicine

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Recurrent Skin Ulcers with Facial Dysmorphism and Sinopulmonary Infections: Thinking Beyond Hyper-IgE Syndrome

et al. 2022

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Prolidase deficiency (PD) 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. It occurs due to the mutations in the prolidase gene (PEPD) that result in loss of prolidase activity. We reported here a child who had presented with features compatible with hyper-immunoglobulin E syndrome (HIES) like recurrent skin ulcers, recurrent infections, facial dysmorphism, retained primary teeth, and elevated levels of immunoglobulin E levels but with normal flow cytometric assays, which was later diagnosed as PD.

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Refractory leg ulcers in prolidase deficiency with antiphospholipid antibody positivity responding to aspirin‐hydroxychloroquine‐vitamin C combination therapy

Cited by 3 publications

References 9 publications

Prolidase Deficiency Causing Recalcitrant Leg Ulcerations in Siblings

Prolidase Deficiency Causing Recalcitrant Leg Ulcerations in Siblings

Quantitative analysis of the natural history of prolidase deficiency: description of 17 families and systematic review of published cases

Recurrent Skin Ulcers with Facial Dysmorphism and Sinopulmonary Infections: Thinking Beyond Hyper-IgE Syndrome

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