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

Pemphigus foliaceous is a rare autoimmune blistering disease, while psoriasis is a common immune‑mediated inflammatory skin disease. The coexistence of psoriasis and pemphigus foliaceous has rarely been reported. We report a case of a 55‑year‑old Filipino female with an 8‑year history of chronic plaque‑type psoriasis biopsy‑proven. After 5 years, she developed generalized flaccid bullae and crusted erosions over the face, trunk, and extremities, with no mucous membrane involvement. Skin punch biopsy, direct immunofluorescence, and enzyme‑linked immunosorbent assay were consistent with pemphigus foliaceous. The combination of topical corticosteroids and oral methotrexate was selected as the therapeutic approach, leading to a notable improvement in the patient’s condition. This case report underscores the significance of identifying the simultaneous presence of psoriasis alongside autoimmune blistering diseases like pemphigus foliaceous. Examining predisposing and triggering factors, performing re‑biopsy, and further work‑up as the disease evolves may yield more profound insights. Nonetheless, effectively managing this condition poses a significant challenge.
Fluorescent Antibody Technique, Direct ; Methotrexate ; Psoriasis

Bullous pemphigoid (BP) is a rare autoimmune blistering disorder primarily affecting older adults, with limited occurrences in children. BP in children typically manifests as large, tense blisters on the skin, often on flexural areas. It also more often affects the oromucosal areas and the face in children than in adults. Diagnosis involves histopathological examination revealing eosinophilic spongiosis or subepidermal split, immunofluorescence tests highlighting immunoglobulin G (IgG) and C3 depositions, and immunological assays detecting BP180 and BP230 IgG autoantibodies. This report presents two cases of childhood BP (CBP) with atypical immunopathological findings. Clinically, the two cases had generalized plaques and bullae, including the face. The first case exhibited the characteristic linear deposits of IgG and C3 on the basement membrane through direct immunofluorescence (DIF) and revealed negative anti‑BP180 antibodies on enzyme‑linked immunosorbent assay (ELISA). In contrast, the second case showed negative DIF results, despite clinical suspicion, but had positive anti‑BP180 IgG antibodies on ELISA. It is, therefore, crucial to consider the complete clinical presentation of the patient, in conjunction with the histological findings and immunopathologic assessments to diagnose CBP.
Pemphigoid, Bullous