Ocular cicatricial pemphigoid (OCP) is a chronic bilateral, blinding, cicatrizing form of conjunctivitis with relapsing and remitting periods. It has strong evidence for an immune type II hypersensitivity that leads to subconjunctival fibrosis and extensive systemic bullae formation. To the best knowledge of the authors, this is the first reported case of direct immunofluorescence (DIF) assay-proven OCP in an elderly Filipino man.

A 68-year-old male presented with bilateral corneal conjunctivalization, symblepharon, ectropion, conjunctival hyperemia testing positive with conjunctival biopsy for basement membrane antibodies with DIF for the left eye, while turning out negative for the right eye. He was managed as a case of OCP, both eyes, and was given topical steroids and antibiotics. Oral Dapsone was started by Dermatology and Rheumatology Services.

OCP is a rare autoimmune and blinding disease. Early diagnosis and prompt treatment are vital as ocular complications permanently affect the quality of life of patients as seen in our patient. DIF assay remains the gold-standard for diagnosis. Systemic immunosuppression is the mainstay of treatment. Adjunctive supportive topical medication may be given to alleviate ocular discomfort. A multidisciplinary approach is essential to provide holistic care to each patient.

Human ; Male ; Child: 6-12 Yrs Old ; Linear Iga Bullous Dermatosis ; Immunoglobulin A ; Skin Diseases

Ocular cicatricial pemphigoid (OCP) is a chronic bilateral, blinding, cicatrizing form of conjunctivitis with relapsing and remitting periods. It has strong evidence for an immune type II hypersensitivity that leads to subconjunctival fibrosis and extensive systemic bullae formation. To the best knowledge of the authors, this is the first reported case of direct immunofluorescence (DIF) assay-proven OCP in an elderly Filipino man.

A 68-year-old male presented with bilateral corneal conjunctivalization, symblepharon, ectropion, conjunctival hyperemia testing positive with conjunctival biopsy for basement membrane antibodies with DIF for the left eye, while turning out negative for the right eye. He was managed as a case of OCP, both eyes, and was given topical steroids and antibiotics. Oral Dapsone was started by Dermatology and Rheumatology Services.

OCP is a rare autoimmune and blinding disease. Early diagnosis and prompt treatment are vital as ocular complications permanently affect the quality of life of patients as seen in our patient. DIF assay remains the gold-standard for diagnosis. Systemic immunosuppression is the mainstay of treatment. Adjunctive supportive topical medication may be given to alleviate ocular discomfort. A multidisciplinary approach is essential to provide holistic care to each patient.

OBJECTIVES: The aim of this study is to determine the effect of cannabinoid receptor (CB) 2 inhibitor on desmoglein 3 (DSG3) expression in HaCaT cells co-cultured with pemphigus serum. METHODS: Immunohistochemical staining was used to compare CB expression in pemphigus patients and normal individuals. Enzyme-linked immunosorbent assay (ELISA) was employed to quantify the concentration of CB2 in the serum of pemphigus patients and normal individuals. A correlation analysis was performed to examine the relationship between the serum CB2 and DSG of pemphigus patients. The CCK-8 assay was used to evaluate the inhibitory effect of AM630 on HaCaT cells, and the half-maximal inhibitory concentration (IC₅₀) value was utilized to determine the experimental concentration. Serum from normal individuals (negative control group) and pemphigus patients (pemphigus group) was co-cultured with HaCaT cells at a 1∶1 ratio. HaCaT cells cultured in complete medium were used as the control group. HaCaT cells in the pemphigus group treated with AM630 were employed as the AM630 group. Real-time polymerase chain reaction (PCR) and Western blot were conducted to assess the expression levels of CB2, DSG3, and β-catenin. Cell dissociation experiments were conducted to evaluate the effect of AM630 on the adhesion of HaCaT cells. RESULTS: Immunohistochemistry revealed significant differences in CB2 expression between pemphigus and normal mucosa (P<0.000 1), but no difference was found in CB1 expression. ELISA analysis revealed a statistically significant difference in the expression levels of CB2 in the serum between normal individuals and pemphigus patients (P<0.001). The expression of CB2 in the serum of pemphigus patients exhibited a significant positive correlation with that of DSG3 (r=0.831, P=0.003). The CCK-8 assay indicated that the IC₅₀ of AM630 on HaCaT cells was 0.55 μmol/L. Real-time PCR and Western blot showed that the expression levels of CB2 and DSG3 increased in the pemphigus group, while the expression level of β-catenin decreased compared with that in the AM630 groups (P<0.05). CONCLUSIONS CB2 is highly expressed in oral mucosal pemphigus. AM630 inhibits overexpression of CB2 and DSG3 and underexpression of β-catenin levels, which can provide new therapeutic targets for pemphigus.
Humans ; Pemphigus/pathology* ; Receptor, Cannabinoid, CB2/metabolism* ; Desmoglein 3/metabolism* ; Acantholysis/metabolism* ; Mouth Mucosa/pathology* ; HaCaT Cells ; Coculture Techniques ; beta Catenin/metabolism*

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

Here, we present a 40-year-old female with multiple pruritic occasionally painful vesicles, papules, and plaques in a circinate pattern on seborrheic areas, progressing to erosions and scales. Clinical findings led to the diagnosis of pemphigus foliaceus (PF). Initial treatment with prednisone and clobetasol ointment, however, did not fully suppress blister formation and healing of erosions. Skin punch biopsy revealed a subcorneal split and intracorneal neutrophilic infiltrates, while enzymelinked immunoassay (ELISA) revealed elevated anti-desmoglein 1 (Dsgl), consistent with PF. Doxycycline was then added to the previous regimen, resulting in remission. We discuss the role of doxycycline as a cost-effective adjunctive treatment in patients with refractory PF.
Pemphigus ; Clobetasol ; Enzyme-Linked Immunosorbent Assay

Introduction: Epidermolysis Bullosa Pruriginosa (EBP) is a rare subtype of the inherited Dystrophic ~ Epidermolysis Bullosa spectrum of diseases and results from a gene mutation in COL7AL Though predominantly an autosomal dominant disease, autosomal recessive and even sporadic have been reported. Case Summary: Case Summary:We report a case of a 12-year-old Filipino male presenting with a chronic history of numerous scratching-induced blisters predominantly distributed on the extensor aspect of his arms and legs without concomitant oral lesions, nail dystrophy, or hair findings, and without a family history of similar lesions. Histopathologic assessment, Direct Immunofluorescence (DIF), and Indirect Immunofiuorescence (IIF) showed a subepidermal split with scant inflammatory infiltrates, no immunofluorescence, and absent userrated linear immunofluorescence at the dermal-side of the Salt Split Skin slide, respectively, which were all consistent with EBP. Enzyme-Linked Immunosorbent Assay (ELISA) for Anti-Collagen VII antibodies was slightly elevated, which may suggest an alternative diagnosis of Epidermolysis Bullosa Acquisita (EBA). This slight elevation may be due to the mutated Collagen Vil protein becoming antigenic and therefore provoking an immune response. To conclusively distinguish EBP from EBA, a COL7AI gene mutation analysis was recommended. With a diagnosis of EBP cannot totally rule out EBA, the patient was initially managed with dapsone monotherapy, counseled regarding behavioral modification to reduce scratching and trauma, advised wound care and close monitoring for the development of oropharyngeal lesions, and recommended for COL7A1 genetic mutation analysis. Conclusion This report demonstrates a case of EBP with elevated Anti-Collagen VII antibodies. The diistinction between EBP and EBA is important because this changes the management: EBP is largely supportive, while EBA may benefit from immunosuppressive therapy.
Epidermolysis Bullosa Pruriginosa ; Enzyme-Linked Immunosorbent Assay ; Epidermolysis Bullosa Acquisita

Acrodermatitis enteropathica is a rare autosomal recessive disease that results from a defect in zinc metabolism. It is clinically characterized by a phenotypic triad of periorificial and acral dermatitis, diarrhea, and alopecia. Oral zinc therapy gives a rapid excellent clinical response and reduces mortality. We report three female pediatric siblings who presented with periorificial and acral dermatitis, diffuse alopecia, nail dystrophy, irritable mood, and stunted growth. A diagnosis of acrodermatitis enteropathicawas confirmed with markedly decreased levels of serum zinc. The patients were successfully treated with oral zinc sulfate at a dose of 5mg/kg/day for the first two weeks then maintained on a dose at 2mg/kg/day.
Zinc ; Blister

Hailey-Hailey Disease (HHD) is a rare, chronic skin condition characterized by relapsing episodes and spontaneous remissions, significantly affecting patients’ quality of life, especially in severe cases. Due to its rarity, there are no established evidence-based treatment guidelines or extensive clinical trials. This case report highlights the rapid improvement of HHD in a 55-year-old Filipino woman treated with a combination of 5-fluorouracil and excimer phototherapy, suggesting that this treatment approach may be an effective alternative for managing the disease.

Junctional Epidermolysis Bullosa (JEB) is a rare inherited blistering disorder characterized by extreme skin fragility. It is associated with COL17A1 mutation that is critical for dermoepidermal adhesion. Effective management in resource-limited settings is challenging and focuses on wound care and trauma prevention to prevent complications and improve quality of life.

A 27-year-old Filipino female presented with recurrent blisters and erosions since infancy, accompanied by diffuse alopecia and anonychia of the toenails. On physical examination, she presented with multiple, well-defined, erythematous tense vesicles and bullae on the trunk, upper and lower extremities which were triggered by minor trauma to the skin. Skin punch biopsy was done revealing a subepidermal blistering dermatosis while direct immunofluorescence (DIF) and Enzyme-Linked Immunosorbent Assay (ELISA) tests for BP180, BP230, and type VII collagen were negative. Genetic testing was done and revealed compound heterozygous mutations in the COL17A1 gene, consistent with JEB. She was managed with non-adhesive dressings, sterile aspiration of blisters, and nutritional support. Despite the severity of her condition, the patient experienced significant improvement in wound healing and quality of life through meticulous wound care, trauma prevention and nutritional support.

This case highlights the unusual case of a 27-year-old Filipino female with JEB who has survived into adulthood, a rarity given the typically poor prognosis associated with severe forms of the disease.