Table II.

Patient characteristics in reported cases of cutaneous melanoma diagnosed in BHDS patients

Study	Study description	Mutational analysis	Dermatologic assessment	Pulmonary involvement	Renal involvement	Others
Sattler et al8	Multinational European study assessing the prevalence of dysplastic nevi and cutaneous melanoma in a cohort of BHDS families	•FLCN mutation present in 32 of 33 families •No mutations in genes known to predispose individuals to cutaneous melanoma identified	•10% diagnosed with cutaneous melanoma – Age, 52-90 years – >60% female – 62.5% invasive stage I-IV •49% diagnosed with dysplastic nevi	N/A	N/A	N/A
Jaster and Wachsmann11	Case report of a 64-year-old man with BHDS receiving immunosuppression therapy for renal transplantation	N/A	Malignant melanoma	Malignant mesothelioma, epithelial subtype	Polycystic kidney disease	N/A
Mota-Burgos et al4	Case report of a 54-year-old man with BHDS	FLCN mutation present	•Cutaneous melanoma of epithelioid cell type, stage IIIb, ulcerated, and in a vertical growth phase •Multiple fibrofolliculomas and acrochordons around facial and cervical areas •Multiple lipomas on extremities •Cutaneous lesions appeared progressively in his 30s-40s	None	None	Several colorectal tubulovillous adenomas
Kasi and Dearmond5	Case report of a 70-year-old man with BHDS	N/A	•Multiple acrochordons •Melanoma •Lipoma •Actinic keratosis •Squamous cell carcinoma	Multiple pulmonary cysts	Clear cell renal cell carcinoma and bilateral renal cysts	Colorectal tubulovillous adenoma
Cocciolone et al9	Case report of a 58-year-old man with BHDS	FLCN mutation present	•2 desmoplastic melanomas on right cheek and left shoulder •Multiple facial fibrofolliculomas	History of spontaneous pneumothorax	None	Salivary gland oncocytoma
Welsch et al3	Case report of a 52-year-old man with BHDS	N/A	•Cutaneous lesions appeared progressively in his late 30s •Malignant cutaneous melanoma on the trunk •Multiple fibrofolliculomas on face, nose, ears •Multiple acrochordons in axillae and lateral aspect of the chest wall	Solitary bullae in right lung and history of pneumothorax	Chromophobe-type renal cell carcinoma	Multinodular goiter
Toro et al12	Case series assessing renal findings in 28 BHDS patients	FLCN mutation present in 1 of 2 patients	•Melanocytic nevi in a 61-year-old woman •Malignant melanoma in a 64-year-old man – Oral papules – Fibrofolliculomas and/or trichodiscomas	N/A	Renal oncocytoma and bilateral solid lesions	N/A
Khoo et al13	Case series assessing genetic and clinical findings in 32 BHDS patients	FLCN mutation present	•A 52-year-old patient with superficial malignant cutaneous melanoma •Multiple cutaneous lesions present in the majority of patients	Pneumothorax and lung cancer in some patients	Renal cysts and renal cell carcinoma present in some patients	The following findings were observed in some patients: •Colorectal polyps •Pleurisy •Gastrointestinal cancer •Nodular cutaneous elastoidosis •Retrobulbar neuropathy •Cutaneous and parotid masses •Breast carcinoma •Meningioma •Vulvar epithelioma •Finger histiocytofibroma •Hashimoto thyroiditis

N/A, Not available.