CYLD cutaneous syndrome (CCS) encompasses numerous inherited skin adnexal tumor syndromes, such Brooke–Spiegler Syndrome (BSS), familial cylindromatosis (FC), and multiple familial trichoepitheliomas (MFT). These syndromes arise from germline pathogenic variants in the tumor suppressor gene CYLD that show variable expressivity. With merely 115 cases documented worldwide and a singular reported incidence among Filipinos, they are exceptionally rare. We present two cases of trichoepitheliomas in Filipino patients, encompassing their clinical, histopathological, and genetic findings.

Our first case is of a 22-year-old male presenting with an 8-year history of asymptomatic skin-colored papules on the nasolabial folds. He was initially diagnosed with milia and underwent electrocauterization; however, recurrence was observed shortly thereafter. No family history exhibited similar lesions.

The second case involves a 43-year-old female with a 31-year history of asymptomatic skin-colored papules on the nose that progressively disseminated to her forehead and ears that started to obstruct the patient’s airway, prompting her to seek consultation.

Genetic testing conducted on affected patients and their relatives identified mutations in the CYLD gene. The first case underwent CO2 laser treatment, while the second patient underwent excision with reconstructive surgery.

Given the rarity of these disorders and their diverse clinical manifestations, genetic testing serves as an invaluable instrument for the purpose of accurate diagnosis, proactive disease progression surveillance, and family planning efforts. This can also contribute to a more comprehensive understanding of the syndrome and the development of new therapeutic strategies.

Human ; Female ; Adult: 25-44 Yrs Old

Introduction: Cherry angiomas are a common type of acquired vascular proliferation of the skin which manifest as single or multiple bright red spots that usually appear on the trunk and arms. They are generally asymptomatic; patients may opt to remove the lesions for cosmetic reasons and prevention of bleeding. Conventionally, most cherry angiomas are treated with curettage, laser, and electrosurgery. Herein, we report a case of multiple cherry angiomas managed alternatively with oral sirolimus. Case: A 47-year-old Filipino female presented with a 10-month history of gradually enlarging multiple bright-red papules and pedunculated nodules with a propensity to spontaneously bleed on gentle manipulation involving the scalp and forehead. Clinicopathological correlation suggests a diagnosis of eruptive cherry angiomas. The patient was started on oral sirolimus, a mammalian target of rapamycin (mTOR) inhibitor. Conclusion We present a case of a patient with eruptive cherry angiomas who experienced significant decrease in size and bleeding with treatment of oral sirolimus with minimal adverse effects. For patients with eruptive cherry angiomas, especially with contraindicated comorbidities, first-line therapeutic option treatments with oral sirolimus can be beneficial.
sirolimus ; vascular malformation

Introduction: Acral lentiginous melanoma is a subtype of melanoma common in Asians with one of the worst prognoses. It is usually detected late especially when situated on the plantar surface of the feet. While other forms of malignancies have been associated with cutaneous tuberculosis, melanoma is not one of them. Case report: This is a case of a 78-year-old male with a six-month history of a solitary asymptomatic reddish-brown papule on the plantar aspect of the right foot, which increased in size evolving into a verrucous plaque. There was no improvement despite treatment with oral antibiotics and topical antifungals. Dermoscopic findings on different parts of the lesion were suggestive of both a granulomatous disease and a melanoma. Purified Protein Derivative (PPD) skin test was positive. Histopathologic findings showed the presence of multinucleated giant cells as well as nests of melanocytes which were highlighted by CD-68 and Melan-A respectively. With clinicopathologic correlation, diagnosis of the patient was tuberculosis verrucosa cutis and acral lentiginous melanoma. Complete excision with adequate margins was advised. The patient was started on a 6-month course of anti-Koch’s medications and was referred to a surgery and oncology for co-management. The patient was subsequently lost to follow up, until worsening of the lesions 6 months later prompted online consultation, claiming poor compliance to his anti-Koch’s regimen. Patient was referred to a surgeon who did wide excision biopsy. Histopathologic findings were consistent with acral lentiginous melanoma. Shortly after the procedure, the patient expired. Conclusion This is a rare case of acral lentiginous melanoma and tuberculosis verrucosa cutis existing concomitantly with each other. This may also be presumed to be the first reported case of acral lentiginous melanoma arising from tuberculosis verrucosa cutis.
Melanoma ; Tuberculosis ; Dermoscopy