Adrenoleucodystrophy: Dermatological Findings and Skin Surface Lipid Study

Papini, Manuela; Calandra, P; Calvieri, Stefano; Laureti, Silvio; Casucci, G

doi:10.1159/000247080

Cited by 8 publications

(9 citation statements)

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“…Ichthyosis-like scaling was found in the patient of Papini et al [8], which has not been reported in other cases with Xlinkcd ALD. Interestingly, in Refsum's disease, character ized by a deficiency in the a-hydroxylation of fatty acids with accumulation of phytanic acid, ichthyosis is an impor tant dermatological finding.…”

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confidence: 70%

“…Hyperseborrhea and sebaceous gland hypertrophy are other features of the case of ALD presented by Papini et al [8]; whether these might be related to the abnormal lipid metabolism in the skin, to the neurologic disturbances or to some alteration in adrenal hormones remains un known. ALD is a rare inborn error of lipid metabolism that should call the attention of dermatologists to peroxisomal function.…”

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confidence: 88%

“…The cutaneous altera tions so far reported in ALD include alopecia, ichthyosiform scaling and hyperseborrhea, the relationship of which, if any, with the basic biochemical defect remains unknown. The observations by Papini et al [8] that skin surface lipids are abnormal in that they contain a marked increase in a very-long-chain fatty acid may be of interest in this respect.…”

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confidence: 98%

“…Females heterozygous for ALD may have loss of body hairs and sparse scalp hair [15]. However, more in-depth investiga tions on hair have not yet been performed in those patients; histology from a bald area of the patient reported by Papini et al [8] showed hypotrophy of the hair follicles and hyper plasia of sebaceous glands. Light microscopy of the hair shafts revealed incomplete twisting.…”

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confidence: 99%

“…Refsum's disease [8], as well as rhizomelic chondrodysplasia punctata [5] and CHILD syndrome [6] are associated with skin alterations, an ichthyotic-likc condition [9], In this issue of Dermatology, Papini et al [8] report the dermatological findings in a patient with X-linked ALD and the metabolic disturbances detectable in the skin sur face lipids.…”

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confidence: 99%

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Peroxisome Disorders and Cutaneous Manifestations

Saurat¹,

Itin²

1994

Dermatology

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Beside complex structures such as endoplasmic reticu lum or mitochondria that electron microscopy reveals in human cells, there are organelles bounded by a single membrane; some of these vesicles contain hydrogen-peroxide-generating enzymes and were therefore called 'peroxi somes' to reflect their role in peroxide metabolism. It was later found that enzymes catalyzing the p-oxidation of fatty acids were located not only in mitochondria but also in per oxisomes; in fact the most important metabolic role of the peroxisome seems to be shortening of very-long-chain fatty acids (>22 carbon atoms) and oxidizing di-and trihydroxycoprostanic acids and pristanic acid, a metabolite of phyta nic acid [1], Thus peroxisomes contain enzymatic activities for P-oxidation of fatty acids that are distinct from the mito chondrial pathway.Peroxisomes Papini et al. [8] report the dermatological findings in a patient with X-linked ALD and the metabolic disturbances detectable in the skin sur face lipids.X-linked ALD is a rare peroxisomal disorder, affecting 1/20,000 males. The disease is characterized by an accumu lation of very-long-chain fatty acids because of impaired shortening in peroxisomes. Diagnosis of X-linked ALD is based on the demonstration of high serum levels of verylong-chain fatty acids. Clinical manifestations are central nervous system demyelination and adrenal insufficiency. However, striking variation of the clinical phenotype exists. The gene locus for ALD has been mapped to the ter Prof. J. Ulrich is acknowledged for kindly reviewing the manuscript.

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