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Advances in dermatology and venereology Acta Dermato-Venereologica
Psoriasis-like Dermatitis in Adulthood : A Skin Manifestation of Holocarboxylase Synthetase Deficiency
Daisuke WATABE 1 , Ayano WATANABE 1 , Toshihide AKASAKA 2 , Osamu SAKAMOTO 3 and Hiroo AMANO 1
1
Department of Dermatology , Iwate Medical University School of Medicine , 19-1 Uchimaru , Morioka , Iwate 020-8505 , 2 Division of Dermatology , Kitakami Saiseikai Hospital , Iwate , and 3 Department of Pediatrics , Tohoku University School of Medicine , Miyagi , Japan . E-mail : dwatabe @ iwate-med . ac . jp Accepted Apr 26 , 2018 ; Epub ahead of print Apr 27 , 2018
Holocarboxylase synthetase deficiency ( HCSD ) is a rare autosomal recessive disorder of biotin metabolism ( 1 ). Holocarboxylase synthetase ( HCS ) plays an essential role in biotin utilization in cells , and its deficiency causes biotin-responsive multiple carboxylase deficiency ( MCD ) in humans ( 2 ). Most patients with HCSD develop symptoms within the first few days or first 2 months of life . The clinical symptoms include tachypnoea , feeding difficulties , seizures , and dermatitis in the early infant period . We report here a case of HCSD presenting as persistent psoriasis-like dermatitis in adulthood .
CASE REPORT
A 34-year-old woman presented with a skin eruption covering the whole body that had persisted since infancy . She had been born to healthy , unrelated Japanese parents . The patient had developed tachypnoea and myoclonic seizures from the second day of life ( 3 ). Investigation confirmed severe metabolic acidosis and ketosis . The results of urinary organic acid analysis and fibroblast carboxylase tests were consistent with a diagnosis of HCSD . With biotin therapy ( 20 mg / day ), her condition had improved quickly , although intermittent respiratory infections had led to metabolic acidosis and organic aciduria . Gene mutation analysis revealed p . L237P and c . 780delG ( formerly termed delG1067 ) in the heterozygous form ( 2 ). Skin lesions had developed from 6 months after birth , and she had been treated with oral retinoid for a diagnosis of psoriasis from 10 years of age . She had no family history of psoriasis . Her recent medication included biotin ( DSM Nutrition , Tokyo , Japan ) and L-carnitine supplementation , at 50 – 100 mg / day and 1,000 mg / day , respectively . Physical examination at our hospital revealed a well-demarcated scaly erythematous plaque on the scalp , face , trunk and extremities ( Fig . 1 ). Involvement of the intertriginous area and angle of the mouth was also evident . The nails were unremarkable , and the hair had a normal texture with no areas of alopecia . Histological examination of a skin biopsy specimen revealed hyperkeratosis , elongation of the rete ridges , and neutrophilic infiltration below the stratum corneum , being compatible with psoriasis ( Fig . S1a , b 1 ). Based on these findings , the skin lesions were considered to be consistent with psoriasis-like dermatitis of HCSD . Oral retinoid and topical betamethasone and calcipotriol had not ameliorated the skin lesions sufficiently , and there had been repeat exacerbation with respiratory tract infection .
The patient was admitted 4 years later with upper respiratory tract infection and high fever . Clinical examination showed an erythematous plaque with pustules and scales on the face , trunk and extremities ( Fig . 2 ). Histological examination of a skin biopsy specimen revealed an extensive neutrophilic infiltration with marked spongiform pustules (“ Kogoj ’ s microabscesses ”) below the stratum corneum ( Fig . S2 1 ). Laboratory examinations yielded elevation of the serum C-reactive protein level 5.92 mg / dl ( normal < 0.3 mg / dl ), and the serum zinc level was normal . The patient was treated with intravenous ampicillin , and the fever and skin lesions resolved gradually .
DISCUSSION
HCSD is an autosomal recessive disorder of organic acid metabolism in humans ( 1 ). HCS catalyses the transfer of biotin to 4 biotin-dependent enzymes : 3-methylcrotonyl CoA carboxylase , propionyl CoA carboxylase , pyruvate carboxylase , and acetyl CoA carboxylase . Deficient HCS activity results in reduced activity of multiple carboxylases ( 2 ). The diagnosis is confirmed by mutation analysis or by measurement of carboxylase activities in fibroblasts at low or high concentrations of biotin . The skin manifestations of HCSD include a sharply marginated , seborrhoeic rash on the scalp , eye brows , and eyelashes , which can spread to the perioral , perinasal , and other flexural areas ( 4 ). Hair thinning and alopecia are also evident . Few
1 https :// www . medicaljournals . se / acta / content / abstract / 10.2340 / 00015555-2954
Fig . 1 . Well-demarcated scaly erythematous plaque on ( a ) the face , ( b ) the back and ( c ) the forearm . Permission from the patient is given to publish these photos .
This is an open access article under the CC BY-NC license . www . medicaljournals . se / acta Journal Compilation © 2018 Acta Dermato-Venereologica . doi : 10.2340 / 00015555-2954 Acta Derm Venereol 2018 ; 98 : 805 – 806