Cutaneous and neurologic manifestations of biotinidase deficiency

Abstract

A male newborn with no obstetric or familial antecedents, except that his parents were cousins, developed hypotonia, lethargy, and feeding problems from birth. Analysis revealed a marked metabolic acidosis and hyperammonemia. Three weeks later, he was admitted to hospital in order to receive parenteral nutrition and to undertake a study for metabolic diseases.The boy did not improve in spite of the use of parenteral nutrition and began to present with inspiratory stridor and tachypnea. One week later, he presented with an erythematous scaling eruption, which was especially intense in the lumbosacral region (Figs 1a, b).The scalp was only slightly affected.Laboratory ®ndings were compatible with biotinidase de®ciency diagnosed by demonstrating absent enzyme activity. His parents were also studied and they were found to have partial biotinidase de®ciency (30% of enzyme activity).After 37 days of life, the baby was given a treatment consisting of 20 mg of biotin per day intravenously. Biochemical and neurologic alterations improved quickly.Meckel's diverticulum and a duodenal membrane were detected at the second month of life after a gastroduodenal survey, and both were operated on. The skin lesions did not improve, however, and intravenous biotin had to be increased to 40 mg/day. The eruption disappeared after 10 days.On his ®rst birthday, he remained asymptomatic with 40 mg of oral biotin. Schwarze et al. Microcystic adnexal carcinoma from radiation therapy Cameo ã A 32-year-old man presented with multiple subcutaneous swellings of 6 years' duration. A biopsy performed 6 years earlier, when the patient presented with papules and plaques, wasreported as tuberculoid Hansen's disease. The patient received dapsone, but showed no improvement. The disease was progressive. The patient currently has bilateral parotid enlargement (Fig. 1), enlarged submandibular, submental, and axillary lymph nodes, multiple subcutaneous swellings over the axillae and arms of cricket ball size, loose skin folds in the axillae (Fig. 2) and groin, and dry, scaly, and ichthyotic skin all over the body. Clinical differential diagnoses of mycosis fungoides and cutis laxa were made. The patient was discharged on request and then was lost to follow-up.

Eruptive Pseudoangiomatosis: Report of an Adult Case and Unifying Hypothesis of the Pathogenesis of Paediatric and Adult Cases

“…Reviewing the accessible literature (Medline; search strategy: ‘erupt* AND pseudoangiomat*’; September 2006), we identified a total of 57 reported cases, 27 of them in children [1, 2,5,6,7,8,9,10,11,12] and 30 in adults [3,4,5,13,14,15,16]. It is worth noting that although the disease was first described in children, meanwhile more adult cases are found in the literature.…”

“…In 1993, Prose et al [2] introduced its current name ‘eruptive pseudoangiomatosis’. In adults the disease was first described in the year 2000 [3, 4], notably in patients under immunosuppressive treatment. More recently insect bites have been proposed as a potential ‘cause’ to explain the aetiology of the disease in adults [5].…”

Acrodermatitis enteropathica and other nutritional diseases of the folds (intertriginous areas)

“…Clinical features range across a spectrum and can include seizures, hypotonia, developmental delay, acidosis, ataxia, metabolic acidosis, and organic aciduria. [13][14][15] Holocarboxylase synthetase deficiency, which presents in neonatal or infant life, manifests with emesis, seizures, feeding difficulties, and metabolic acidosis. 16 BTD deficiency, though typically later in onset (from the first week to after the first year of life), presents similarly.…”

“…Dosages are variable ranging from 5 to 40 mg/ day in cases of inherited deficiency and with 150 μg/day in acquired deficiency. 8,14 The metabolic abnormalities resolve soon thereafter, and cutaneous manifestations typically dissipate within approximately 1 to 2 weeks after initiation of treatment. 14 Treatment should be initiated rapidly after diagnosis as therapeutic delay can lead to permanent neurologic sequelae, including auditory and vision loss.…”

Vitamin-Responsive Epileptic Encephalopathies in Children

“…When children remain asymptomatic till later childhood or adolescence, presentation can be with features such as rapid visual loss with scotomas, optic neuropathy, and spastic paraparesis, causing diagnostic confusion with juvenile multiple sclerosis [57]. Cutaneous findings include atopic/seborrheic dermatitis, alopecia including loss of eyebrows and eyelashes, hypopigmentation of skin or hair, and fungal skin infections [58–61]. Respiratory symptoms have also been described and include hyperventilation, laryngeal stridor, and apnea [62].…”