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Association of dermal melanocytosis with lysosomal storage disease: clinical features and hypotheses regarding pathogenesis.
Arch Dermatol 2003; 139(7):916-20AD

Abstract

BACKGROUND

The potential association of dermal melanocytosis with lysosomal storage disease in infancy is an uncommonly known and poorly understood entity.

OBSERVATIONS

We describe 2 infants with extensive dermal melanocytosis in association with GM1 gangliosidosis type 1 and Hurler syndrome, respectively. A literature analysis revealed 37 additional cases. Clinically, dermal melanocytosis associated with lysosomal storage disease is characterized by extensive, blue cutaneous pigmentation with dorsal and ventral distribution, indistinct borders, and persistent and/or "progressive" behavior. GM1 gangliosidosis type 1 and Hurler syndrome are the most common underlying disorders associated with these cutaneous features.

CONCLUSIONS

In the appropriate clinical setting, an unusual presentation of dermal melanocytosis in an infant may be a cutaneous sign of an underlying lysosomal storage disease. The pathogenetic mechanisms behind this association remain to be elucidated.

Authors+Show Affiliations

Department of Dermatology, Texas Children's Hospital, Baylor College of Medicine, Houston, 77030, USA.No affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Review

Language

eng

PubMed ID

12873889

Citation

Hanson, Miriam, et al. "Association of Dermal Melanocytosis With Lysosomal Storage Disease: Clinical Features and Hypotheses Regarding Pathogenesis." Archives of Dermatology, vol. 139, no. 7, 2003, pp. 916-20.
Hanson M, Lupski JR, Hicks J, et al. Association of dermal melanocytosis with lysosomal storage disease: clinical features and hypotheses regarding pathogenesis. Arch Dermatol. 2003;139(7):916-20.
Hanson, M., Lupski, J. R., Hicks, J., & Metry, D. (2003). Association of dermal melanocytosis with lysosomal storage disease: clinical features and hypotheses regarding pathogenesis. Archives of Dermatology, 139(7), pp. 916-20.
Hanson M, et al. Association of Dermal Melanocytosis With Lysosomal Storage Disease: Clinical Features and Hypotheses Regarding Pathogenesis. Arch Dermatol. 2003;139(7):916-20. PubMed PMID: 12873889.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Association of dermal melanocytosis with lysosomal storage disease: clinical features and hypotheses regarding pathogenesis. AU - Hanson,Miriam, AU - Lupski,James R, AU - Hicks,John, AU - Metry,Denise, PY - 2003/7/23/pubmed PY - 2003/10/8/medline PY - 2003/7/23/entrez SP - 916 EP - 20 JF - Archives of dermatology JO - Arch Dermatol VL - 139 IS - 7 N2 - BACKGROUND: The potential association of dermal melanocytosis with lysosomal storage disease in infancy is an uncommonly known and poorly understood entity. OBSERVATIONS: We describe 2 infants with extensive dermal melanocytosis in association with GM1 gangliosidosis type 1 and Hurler syndrome, respectively. A literature analysis revealed 37 additional cases. Clinically, dermal melanocytosis associated with lysosomal storage disease is characterized by extensive, blue cutaneous pigmentation with dorsal and ventral distribution, indistinct borders, and persistent and/or "progressive" behavior. GM1 gangliosidosis type 1 and Hurler syndrome are the most common underlying disorders associated with these cutaneous features. CONCLUSIONS: In the appropriate clinical setting, an unusual presentation of dermal melanocytosis in an infant may be a cutaneous sign of an underlying lysosomal storage disease. The pathogenetic mechanisms behind this association remain to be elucidated. SN - 0003-987X UR - https://www.unboundmedicine.com/medline/citation/12873889/Association_of_dermal_melanocytosis_with_lysosomal_storage_disease:_clinical_features_and_hypotheses_regarding_pathogenesis_ L2 - https://jamanetwork.com/journals/jamadermatology/fullarticle/vol/139/pg/916 DB - PRIME DP - Unbound Medicine ER -