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Journal of the American Academy of Dermatology
Volume 57, n° 3
pages 407-412 (septembre 2007)
Doi : 10.1016/j.jaad.2007.01.037
accepted : 21 January 2007
Reports

Angiokeratoma corporis diffusum in human β-mannosidosis: Report of a new case and a novel mutation
 

Vered Molho-Pessach, MD a, Ruth Bargal, MSc b, Yigal Abramowitz, MD c, Victoria Doviner, MD d, Arieh Ingber, MD a, Annick Raas-Rothschild, MD b, Zvi Ne’eman, PhD d, Marsha Zeigler, PhD b, Abraham Zlotogorski, MD a,
a From the Departments of Dermatology 
b Human Genetics 
c Internal Medicine 
d Pathology, Hadassah-Hebrew University Medical Center 

Correspondence to: Abraham Zlotogorski, MD, Department of Dermatology, Hadassah-Hebrew University Medical Center, P.O. Box 12000, Jerusalem 91120, Israel.

Jerusalem, Israel

Abstract
Background

Human β-mannosidosis, a rare disorder of oligosaccharide catabolism, results from a deficiency of β-mannosidase activity. So far, mutational analysis has been performed in only seven families and revealed 11 mutations in the MANBA gene which encodes the enzyme β-mannosidase.

Objectives

We report here a 36-year-old Arab female with β-mannosidosis who presented with mental retardation and multiple angiokeratomas. We describe in this patient a novel null mutation and review the previously reported MANBA gene mutations and their clinical correlations.

Methods

Histopathology, ultrastructural analysis, and enzyme assays were performed. Sequencing of cDNA and genomic DNA analysis was conducted in a search for a mutation in the MANBA gene.

Results

Histopathology of a skin biopsy specimen from the patient showed the characteristic findings of angiokeratoma. Electron microscopy showed cytoplasmic vacuolation. Enzymatic activity of β-mannosidase in the patient’s serum, leukocytes, and fibroblasts was less than 1% of control values. Sequencing of the MANBA cDNA revealed a G→A transition in exon 6 at nucleotide position c.693, resulting in the formation of a stop codon (W231X).

Limitations

Only one family was studied.

Conclusions

A new case of human β-mannosidosis is presented and the first MANBA gene mutation from Arab ancestry is reported. Reviewing the reported MANBA gene mutations does not reveal a clear genotype–phenotype correlation. The importance of angiokeratoma corporis diffusum as the clue to the diagnosis of β-mannosidosis and other lysosomal storage diseases is emphasized.

The full text of this article is available in PDF format.

 Supported by the Authority for Research and Development, Hebrew University of Jerusalem (to A. Z.).
Conflicts of interest: None declared.
Reprints not available from the authors.



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