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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