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Facial Erythema and Onychoschizia—Diagnosis

Facial Erythema and Onychoschizia—Diagnosis Diagnosis: Biotinidase deficiency. Microscopic findings and clinical course The hematoxylin-eosin–stained punch biopsy specimen revealed mild acanthosis and hyperkeratosis, with a predominance of parakeratosis and mild perivascular infiltration of the upper dermis. Biotinidase activity was reduced to 50% and 26% (reference value, 8.4 nmol/min per milliliter) in the patient’s father and mother, respectively. Carboxylase activity was determined in a sample of the patient’s lymphocytes, revealing a significant reduction of propionyl-CoA [coenzyme A] carboxylase, β-methylcrotonyl-CoA carboxylase, and pyruvate carboxylase to 26%, 36%, and 54%, respectively, of the levels seen in a normal unrelated control sample. Quantitative serum amino acid values were normal, and a urinary organic acid screen revealed mildly elevated concentrations of β-methylcrotonylglycine and methylcitrate. The results of the rest of the laboratory studies, including complete blood cell count, differential cell count, standard chemistry panel, and liver function tests, were normal. Biotinidase deficiency was diagnosed, and biotin therapy (dosage, 15 mg/d for 7 days and then tapered to 10 mg/d) was initiated, which resulted in complete resolution of the patient’s clinical manifestations. Discussion Biotinidase is an enzyme that releases biotin from biocytin, allowing biologic availability. In mammals, biotin is a key factor for 4 classes of carboxylases: pyruvate carboxylases, methylcrotonyl-CoA carboxylases, propionyl-CoA carboxylases, and acetyl-CoA carboxylases, which catalyze essential steps in metabolism.1,2 Children with biotinidase deficiency2 have a deficit of these carboxylases within their fibroblasts and leukocytes. This deficit can manifest at birth or later. The skin manifestations of biotinidase deficiency include, in descending order of frequency, total or partial alopecia, rash, and skin infection. The rash typically occurs periorificially on the face, around the eyes, mouth, and nose, which is a similar distribution to that of candidiasis of the skin.2 It may be eczematous, sometimes desquamating, and, occasionally, more prominent on the back.3 The differential diagnosis of the rash caused by biotinidase deficiency includes acrodermatitis enteropathica, seborrheic dermatitis, alopecia, and staphylococcal infections.1 Neurologically, the most common clinical manifestations in children are hypotonia, lethargy, seizures, and developmental delay; the most common clinical manifestation in adults is depression.1,2,4 The sequelae resulting from a lack of treatment include loss of hearing and vision in up to 25% to 50% of cases.1,2,5 Microscopically, hyperkeratosis and parakeratosis are observed, along with spongiosis and follicular plugging, as well as an inflammatory infiltrate.6 Biotinidase deficiency can be profound (<10% of mean normal activity) or partial (approximately 30% of mean normal activity); it is inherited by recessive autosomal trait; and consanguinity of parents has been reported in 20% of cases. Individuals with partial biotinidase deficiency may develop symptoms only when they are stressed, such as during infection. Treatment consists of oral administration of biotin, in 5- to 20-mg doses, which resolves the rash in 1 or 2 weeks.1,2 References 1. Wolf BGrier RAllen R et al. Phenotypic variation in biotinidase deficiency J Pediatr 1983;103233- 237PubMedGoogle ScholarCrossref 2. Mock D Skin manifestations of biotin deficiency Semin Dermatol 1991;10296- 302PubMedGoogle Scholar 3. Navarro PCGuerra AAlvárez JGOrtiz FJ Cutaneous and neurologic manifestations of biotinidase deficiency Int J Dermatol 2000;39363- 365PubMedGoogle ScholarCrossref 4. de Parscau LBeaufrère BVianey-Liaud C et al. Le déficit en biotinidase: une maladie à expresión neurologique et cutanée sensible à la biotine Pediatrie 1989;44383- 386PubMedGoogle Scholar 5. Wastell HJBartlett KDale GShein A Biotinidase deficiency: a survey of 10 cases Arch Dis Child 1988;631244- 1249PubMedGoogle ScholarCrossref 6. Proud VRizzo WPatterson JHard GWolf B Fatty acid alterations and carboxylase deficiencies in the skin of biotin-deficient rats Am J Clin Nutr 1990;51853- 858PubMedGoogle Scholar http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Archives of Dermatology American Medical Association

Facial Erythema and Onychoschizia—Diagnosis

Archives of Dermatology , Volume 141 (11) – Nov 1, 2005

Facial Erythema and Onychoschizia—Diagnosis

Abstract

Diagnosis: Biotinidase deficiency. Microscopic findings and clinical course The hematoxylin-eosin–stained punch biopsy specimen revealed mild acanthosis and hyperkeratosis, with a predominance of parakeratosis and mild perivascular infiltration of the upper dermis. Biotinidase activity was reduced to 50% and 26% (reference value, 8.4 nmol/min per milliliter) in the patient’s father and mother, respectively. Carboxylase activity was determined in a sample of the patient’s...
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Publisher
American Medical Association
Copyright
Copyright © 2005 American Medical Association. All Rights Reserved.
ISSN
0003-987X
eISSN
1538-3652
DOI
10.1001/archderm.141.11.1457-e
Publisher site
See Article on Publisher Site

Abstract

Diagnosis: Biotinidase deficiency. Microscopic findings and clinical course The hematoxylin-eosin–stained punch biopsy specimen revealed mild acanthosis and hyperkeratosis, with a predominance of parakeratosis and mild perivascular infiltration of the upper dermis. Biotinidase activity was reduced to 50% and 26% (reference value, 8.4 nmol/min per milliliter) in the patient’s father and mother, respectively. Carboxylase activity was determined in a sample of the patient’s lymphocytes, revealing a significant reduction of propionyl-CoA [coenzyme A] carboxylase, β-methylcrotonyl-CoA carboxylase, and pyruvate carboxylase to 26%, 36%, and 54%, respectively, of the levels seen in a normal unrelated control sample. Quantitative serum amino acid values were normal, and a urinary organic acid screen revealed mildly elevated concentrations of β-methylcrotonylglycine and methylcitrate. The results of the rest of the laboratory studies, including complete blood cell count, differential cell count, standard chemistry panel, and liver function tests, were normal. Biotinidase deficiency was diagnosed, and biotin therapy (dosage, 15 mg/d for 7 days and then tapered to 10 mg/d) was initiated, which resulted in complete resolution of the patient’s clinical manifestations. Discussion Biotinidase is an enzyme that releases biotin from biocytin, allowing biologic availability. In mammals, biotin is a key factor for 4 classes of carboxylases: pyruvate carboxylases, methylcrotonyl-CoA carboxylases, propionyl-CoA carboxylases, and acetyl-CoA carboxylases, which catalyze essential steps in metabolism.1,2 Children with biotinidase deficiency2 have a deficit of these carboxylases within their fibroblasts and leukocytes. This deficit can manifest at birth or later. The skin manifestations of biotinidase deficiency include, in descending order of frequency, total or partial alopecia, rash, and skin infection. The rash typically occurs periorificially on the face, around the eyes, mouth, and nose, which is a similar distribution to that of candidiasis of the skin.2 It may be eczematous, sometimes desquamating, and, occasionally, more prominent on the back.3 The differential diagnosis of the rash caused by biotinidase deficiency includes acrodermatitis enteropathica, seborrheic dermatitis, alopecia, and staphylococcal infections.1 Neurologically, the most common clinical manifestations in children are hypotonia, lethargy, seizures, and developmental delay; the most common clinical manifestation in adults is depression.1,2,4 The sequelae resulting from a lack of treatment include loss of hearing and vision in up to 25% to 50% of cases.1,2,5 Microscopically, hyperkeratosis and parakeratosis are observed, along with spongiosis and follicular plugging, as well as an inflammatory infiltrate.6 Biotinidase deficiency can be profound (<10% of mean normal activity) or partial (approximately 30% of mean normal activity); it is inherited by recessive autosomal trait; and consanguinity of parents has been reported in 20% of cases. Individuals with partial biotinidase deficiency may develop symptoms only when they are stressed, such as during infection. Treatment consists of oral administration of biotin, in 5- to 20-mg doses, which resolves the rash in 1 or 2 weeks.1,2 References 1. Wolf BGrier RAllen R et al. Phenotypic variation in biotinidase deficiency J Pediatr 1983;103233- 237PubMedGoogle ScholarCrossref 2. Mock D Skin manifestations of biotin deficiency Semin Dermatol 1991;10296- 302PubMedGoogle Scholar 3. Navarro PCGuerra AAlvárez JGOrtiz FJ Cutaneous and neurologic manifestations of biotinidase deficiency Int J Dermatol 2000;39363- 365PubMedGoogle ScholarCrossref 4. de Parscau LBeaufrère BVianey-Liaud C et al. Le déficit en biotinidase: une maladie à expresión neurologique et cutanée sensible à la biotine Pediatrie 1989;44383- 386PubMedGoogle Scholar 5. Wastell HJBartlett KDale GShein A Biotinidase deficiency: a survey of 10 cases Arch Dis Child 1988;631244- 1249PubMedGoogle ScholarCrossref 6. Proud VRizzo WPatterson JHard GWolf B Fatty acid alterations and carboxylase deficiencies in the skin of biotin-deficient rats Am J Clin Nutr 1990;51853- 858PubMedGoogle Scholar

Journal

Archives of DermatologyAmerican Medical Association

Published: Nov 1, 2005

Keywords: erythema,face,onychoschizia,biotinidase deficiency

References