Nearly all people with type 1 Gaucher disease had skin changes in study
Study of 101 patients found a broader range of skin changes
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Skin changes may be more widespread in people with type 1 Gaucher disease (GD1) than previously recognized, with nearly all study participants having at least one, a study shows.
The skin manifestations included previously underrecognized changes such as redness of the palms, atypical spots of skin discoloration, and rosacea and related facial skin changes, which can include persistent discoloration, flushing, acne-like bumps, and visible blood vessels.
These findings suggest that “dermatologic [skin] examination may provide useful adjunctive information for counseling and surveillance in GD1,” the researchers wrote.
The study, “The cutaneous phenotypic landscape of Gaucher disease type 1: a clinic-based cross-sectional study,” was published in the Journal of the American Academy of Dermatology.
Skin changes in type 1 Gaucher disease remain poorly understood
Gaucher disease is caused by mutations in the GBA1 gene, which provides instructions for making an enzyme called glucocerebrosidase (GCase). GCase helps break down the fatty molecule glucocerebroside (Gb1).
When GCase is missing or does not work properly, Gb1 accumulates to toxic levels in certain cells, leading to symptoms such as fatigue, easy bruising and prolonged bleeding, and bone problems. In Gaucher type 1, the most common form of the disease, symptoms often begin in childhood or adolescence.
Earlier historic reports of GD1 have also described skin changes, including darker or lighter skin areas, purple-red spots caused by bleeding under the skin (purpura), and widened small blood vessels near the skin’s surface (telangiectasia). However, skin manifestations of GD1 in the context of modern treatment remain poorly characterized.
To learn more, researchers studied 101 people with GD1 during routine visits at a single center in Israel between January 2024 and May 2025. Each patient underwent a standardized full-body examination by a dermatologist.
Participants had a median age of 31.2 years (range, 1.5-86.1 years), and 55.4% were female. Most (70.2%) were receiving treatment, either enzyme replacement therapy or substrate reduction therapy.
Those receiving treatment were significantly older than untreated patients (41.5 vs. 16.6 years) and were significantly more likely to have a severe Gaucher genotype (46.5% vs. 16.7%).
Almost all participants (98%) had at least one skin-related finding. Common findings not previously reported included redness of the palms (53.5%), rosacea and related skin changes (45.5%), and café-au-lait spots (20.8%), most of which had mottled or speckled coloring and irregular borders. These “findings may represent under-recognized features of GD1,” the researchers wrote.
Skin changes varied with age, sex, and treatment
Other common skin manifestations included purpura or bruise-like areas (50.5%) and areas of yellow-brown skin discoloration (38.6%).
“This contemporary, systematically examined GD1 [study] demonstrates that [skin] involvement is nearly universal, broader than previously recognized, and more prevalent than in the general population,” the researchers wrote.
Age was the strongest factor associated with several skin findings. As age increased, so did the likelihood of angiomas, or small benign growths of blood vessels, telangiectasias, purpura or bruising, slow wound healing, and yellow-brown skin discoloration. By contrast, the likelihood of pale skin decreased with age.
Additionally, male sex was independently associated with telangiectasias and palmar redness. Current GD treatment was associated with a higher likelihood of yellow-brown skin discoloration, while prior treatment was associated with a lower likelihood of purpura or bruising.
Skin manifestations were not independently associated with Gaucher genotype severity or lyso-Gb1, a Gaucher disease biomarker. According to the researchers, these findings suggest that skin manifestations may be influenced by processes specific to the skin, rather than reflecting the overall disease burden.
Because the study was cross-sectional, it could identify associations but could not determine whether treatment caused the skin findings. The researchers therefore cautioned that “therapy-linked [skin discoloration] and reduced bruising after prior therapy require confirmation in longitudinal [studies].”
