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

Cutaneous metastasis (CM) describes the spread of a distant primary tumor into the skin. The overall incidence of CM ranges from 5% to 10% with breast cancer having the highest rate in women. CM of breast carcinoma origin may manifest as erysipelas-like erythema on the chest, having distinct raised borders and edema due to lymphatic obstruction termed as carcinoma erysipeloides. In most cases, CM is recognized after the initial diagnosis of primary internal malignancy. However, in 0.6–1% of cases, CM served as the first presenting sign of malignancy. A 48-year-old female presented with multiple, erythematous patches, and plaques with clear-cut raised margins, some topped with violaceous pinpoint papules and nodules on the chest, abdomen, and back. No palpable breast mass was appreciated. There was noted nipple retraction and axillary lymphadenopathy. A 4-mm skin punch biopsy revealed nests of large pleomorphic cells on the papillary dermis admixed with mitotic figures and attempts of ductal formation. CK7 and CEA were positive. Results of ultrasonography and mammogram were highly suspicious of malignancy. Core needle biopsy of the breast mass revealed an invasive ductal carcinoma. In the context of an eczematous presentation on the chest area without palpable nodules or mass on breast examination, a diagnostic challenge is expected. Interestingly, our patient represents a small group of CM having cutaneous lesions as their primary manifestation. A high index of suspicion supplemented with proper clinicopathologic and radiologic correlation is crucial for the diagnosis of CM. A multidisciplinary referral is required for adequate management and overall survival rate.
Breast Neoplasms

Introduction: Pseudomonas aeruginosa is an opportunistic, gram-negative bacillus that can contaminate skin or open wounds to cause skin infections that are historically difficult to manage. The pathogenesis of green nail syndrome (GNS) begins with hyperhydration (occlusion, sweating, maceration) or destruction (microtrauma, dermatitis) of the epidermis thus disrupting the physical barrier, leading to the colonization and proliferation of P. aeruginosa. This case explores the off-label use of nadifloxacin, a fluoroquinolone approved for acne and bacterial skin infections in some countries, to treat a case of GNS. Case Report: This is a case of a 31-year-old Filipino female who presented with a four-month history of green discoloration of the lateral portion of the right thumbnail with a medical history of antiphospholipid antibody syndrome and rheumatoid arthritis. Clinical examination showed a dystrophic thumbnail with greenish discoloration, erythema and swelling around the base of the cuticle, and distal onycholysis. Laboratory findings revealed co-infection of P. aeruginosa and Candida parapsilosis. The patient was effectively treated with topical nadifloxacin and oral fluconazole. Conclusion This case highlights the possibility of fungal and polymicrobial infections in GNS and suggests a novel, easy-to-use, and cost-effective alternative treatment to GNS secondary to P. aeruginosa in the form of topical nadifloxacin.
Candida parapsilosis ; Pseudomonas aeruginosa ; Onychomycosis

Introduction: Epidermolysis Bullosa Acquisita (EBA) is a rare autoimmune blistering disease which presents in the skin and mucous membranes. The decrease in anchoring fibrils in the basement membrane zone causes separation of the epidermis from the dermis, resulting in its blistering presentation. The treatment plan will depend on the severity of the disease. The first-line treatment for mild EBA includes topical corticosteroids and immunomodulators such as dapsone and colchicine; while severe cases of EBA may be given intravenous immunoglobulins, systemic steroids, and immunosuppressants such as azathioprine and cyclophosphamide. Case Report: This is a case of a 50-year-old Filipino male who presented with a 2-year history of vesicles and tense bullae which evolved into papules, plaques and erosions with scarring and milia formation on the scalp and trauma-prone areas of the trunk and extremities. Clinical examination revealed multiple, well-defined, irregularly shaped erythematous papules and plaques with crusts, scales, erosions, pearl-like milia and scarring on the chest, back, upper, and lower extremities. The oral mucosa was moist with some ulcers on the tongue. Histopathologic examination using Hematoxylin and Eosin (H&E) stain revealed the absence of the epidermis with retention of dermal papillae suggestive of subepidermal clefting. Further examination with direct immunofluorescence (DIF) revealed monoclonal immunoglobulin (IgG) deposits demonstrating an intense linear fluorescent band at the dermoepidermal junction, consistent with Epidermolysis Bullosa Acquisita. Overall, the combined administration of prednisone, azathioprine, and colchicine resulted only in transient and incomplete resolution of lesions in this case of EBA. Conclusion The management of EBA is mostly supportive with the goal of minimizing complications. Combination treatments using steroids, colchicine, and azathioprine have been reported with various results. Its management remains challenging as most cases are refractory to treatment.
Epidermolysis Bullosa Acquisita ; bullous disease ; azathioprine ; colchicine ; prednisone

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

Background: Ophthalmologic evaluation is often neglected in routine screening of Hansen’s disease patients. In line with the global aim of reducing grade 2 disability, eye examination should be an essential part of routine examination of Hansen’s disease patients. Objective: To describe the ophthalmologic profile of patients with Hansen’s disease seen in a tertiary hospital. Methods: A point-prevalence survey was conducted. Sixty-six Hansen’s disease patients, aged 18 and above, underwent complete ophthalmologic examination including visual acuity, refraction, external eye examination, intraocular pressure determination, dilated pupil examination, palpebral aperture measurement, corneal sensation testing, and tear breakup time determination. Statistical analysis was done. Results: All patients had ocular findings with lepromatous leprosy (62%) being the highest. Fifty-three percent had Type 2 lepra reaction. Most were males, disease duration in majority was < 5 years and bacillary morphologic index was 4.0 – 4.99. Patients with Grade 1 and Grade 2 disability of the eyes were 62% and 17% respectively. The most common ocular complications were: abnormal tear breakup time (79%), cataracts (53%),blepharitis (47%), madarosis (39%) and corneal opacities (24%). Conclusion There is a significant number of ocular findings among leprosy patients in this study. The highest number of ocular complications is among patients in the lepromatous pole. There is a preference of M. leprae for cooler areas; hence, the anterior chamber was greatly affected.
Leprosy

Mycetoma is a chronic, debilitating, granulomatous disease affecting the subcutaneous tissue, fascia, muscle, bone and adjacent organs characterized by triad of tumefaction, draining sinus, and grains. The ten-year incidence in our institution from 2000 to 2010 is 3 out of 81,015 cases. We present a 33-year-old man with a nine-year history of painless nodules and draining sinuses on the left foot which were unresponsive to oral antibiotics and topical antifungals. Biopsy of a nodule was consistent with mycetoma. Fungal culture revealed Madurella mycetomatis growth confirming eumycetoma. X-ray of the left foot showed poorly marginated lucencies on the calcaneus and navicular bones. Ultrasound revealed mixed hyperreflective echoes and multiple small cavities. We diagnosed the patient with Stage III eumycetoma based on the radiographic classification of bone involvement and prescribed oral ketoconazole 400 mg daily for nine months achieving 50-60% decrease in lesion size. Surgical debulking was done and ketoconazole was continued at the same dose for another nine months. There was good granulation tissue formation and no appearance of new lesions after surgery.

Human ; Adult ; Anti-bacterial Agents ; Calcaneus ; Cytoreduction Surgical Procedures ; Fascia ; Foot ; Granulation Tissue ; Ketoconazole ; Madurella ; Mycetoma ; Subcutaneous Tissue ; Ultrasonography

Mycosis fungoides presenting with hypopigmented lesions is an uncommon variant, which is usually described among dark-skinned patients. We report a case of hypopigmented mycosis fungoides in an eight-year-old girl who has responded favorably to narrowband-ultraviolet B therapy. The disease mimics several benign inflammatory skin conditions, hence, a high clinical suspicion is warranted in patients presenting with widespread hypopigmentation.

Human ; Female ; Child ; Albinism, Oculocutaneous ; Hypopigmentation ; Mycosis Fungoides ; Skin ; Lymphoma

BACKGROUND: Lepra reactions occur in 10-30% of patients with leprosy. The standard of treatment is prednisone. However , prolonged steroid use may cause side effects such as osteoporosis, hypertension, hyperlipidemia, atherosclerosis and infections. Fusidic acid targets cytokine systems responsible for the production of Type 1 lepra reaction (T1R) and erythema nodosum leprosum (ENL). It may be given as a steroid-sparing agent in treating lepra reactions.

OBJECTIVE: To determine the safety and efficacy of fusidic acid as a steroid-sparing agent in the treatment of  Type 1 and Type 2  lepra reactions.

METHODS: A randomized controlled trial was conducted on 67 subjects with lepra reactions, aged 18-60, each assigned to receive either prednisone or prednisone + fusidic acid for 12 weeks. Severity of lepra reactions were graded quantitatively using a modified scale by Walker et al and van Brakel et al, and qualitatively using modified National Leprosy Control Program (NLCP) Guidelines at baseline, weeks 2,4,6,8,10 and 12. Doses of prednisone needed to control lepra reactions were also noted at each follow up and statistical analyses were done . Adverse reactions were noted.

RESULT: Sixty subjects (89.55%) completed the study. The prednisone + fusidic acid group had lower quantitative and qualitative scores compared to the prednisone group. There were significant differences between the two groups for the quantitative severity scores (p=1.44x10-11) and qualitative severity grading (p=9.36x10-14) at week 12. The mean dose of prednisone was 21.5 mg in the prednisone group and 2 mg in the prednisone + fusidic acid group at week 12 (p=1.01x10-12). No adverse reactions were reported.

CONCLUSION: Fusidic acid tablet 250mg/tab two tablets three times a day is an effective and safe steroid-sparing agent for the treatment of lepra reactions.

Human ; Male ; Female ; Leprosy ; Prednisone