Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2022 Jul 6:27:61-63.
doi: 10.1016/j.jdcr.2022.06.035. eCollection 2022 Sep.

Amelanotic melanoma in a patient with Hermansky-Pudlak syndrome

Affiliations
Case Reports

Amelanotic melanoma in a patient with Hermansky-Pudlak syndrome

Ryan Fan et al. JAAD Case Rep. .
No abstract available

Keywords: BCC, basal cell carcinoma; HPS, Hermansky-Pudlak syndrome; Hermansky-Pudlak syndrome; OCA, oculocutaneous albinism; SCC, squamous cell carcinoma; albinism; melanoma.

PubMed Disclaimer

Conflict of interest statement

None disclosed.

Figures

Fig 1
Fig 1
Clinical image of primary melanoma on the left cheek. There is a 1.5-cm pink-red nodule on the left cheek. Note pigmentary dilution of skin and hair as characteristic features of Hermansky-Pudlak syndrome.
Fig 2
Fig 2
Histological images of amelanotic melanoma. A, Hematoxylin & eosin (H&E) staining of melanoma at 40×. B, Melan-A staining at 40×. C, H&E at 400×. Note lack of pigment and numerous mitoses.

References

    1. Wei A.H., Li W. Hermansky-Pudlak syndrome: pigmentary and non-pigmentary defects and their pathogenesis. Pigment Cell Melanoma Res. 2013;26(2):176–192. doi: 10.1111/pcmr.12051. - DOI - PubMed
    1. Li W., Hao C.J., Hao Z.H., et al. New insights into the pathogenesis of Hermansky-Pudlak syndrome. Pigment Cell Melanoma Res. 2022;35(3):290–302. doi: 10.1111/pcmr.13030. - DOI - PubMed
    1. Santiago Borrero P.J., Rodríguez-Pérez Y., Renta J.Y., et al. Genetic testing for oculocutaneous albinism type 1 and 2 and Hermansky-Pudlak syndrome type 1 and 3 mutations in Puerto Rico. J Invest Dermatol. 2006;126(1):85–90. doi: 10.1038/sj.jid.5700034. - DOI - PMC - PubMed
    1. de Vijlder H.C., de Vijlder J.J., Neumann H.A. Oculocutaneous albinism and skin cancer risk. J Eur Acad Dermatol Venereol. 2013;27(3):e433–e434. doi: 10.1111/j.1468-3083.2012.04633.x. - DOI - PubMed
    1. Iwata Y., Kobayashi T., Arima M., et al. Case of Japanese Hermansky-Pudlak syndrome patient with deeply invasive squamous cell carcinoma and multiple lesions of actinic keratosis on the face and neck. J Dermatol. 2017;44(2):219–220. doi: 10.1111/1346-8138.13462. - DOI - PubMed

Publication types