Linear IgA Bullous Dermatosis (LABD) is an autoimmune mucocutaneous disease characterized by linear deposits of IgA at the basement membrane zone on immunopathology. Direct immunofluorescence (DIF) remains the gold standard for diagnosis. Dapsone is the most commonly used therapeutic agent, but potential side effects such as hemolysis, agranulocytosis and methemoglobinemia in G6PD deficient patients necessitate the use of other treatments such as topical corticosteroids, tetracyclines, erythromycin, sulfonamides, nicotinamide, rituximab, omalizumab, methotrexate, cyclosporine and intravenous immunoglobulin.

We present a 7 year old Filipino female presenting with a 19 day history of multiple erythematous pruritic papules on the lower extremities which progressed to vesicles and bullae. Laboratory tests showed increased WBC, Koch’s Infection on Chest X-ray and a low G6PD Enzyme Assay. Skin punch biopsy and DIF also showed subepidermal blistering disease and findings consistent with LABD. The patient was placed on Prednisone 20 mg/5 mL syrup 5 mL for 2 weeks, Erythromycin 250 mg/5 mL syrup and Niacinamide 300 mg/paper tab for 1 month. She was also treated with Clobetasol Propionate 0.05% ointment and Betamethasone Valerate 0.1% ointment OD for 1 month. On follow up, the patient was well with no new onset of vesicles and bullae.

LABD has relied on Direct Immunofluorescence (DIF) for diagnosis and Dapsone as its first line treatment. Given that the patient has a low G6PD result, Dapsone was not given. Instead, systemic antibiotic and corticosteroids, Niacinamide supplement and topical corticosteroids was used as treatment. Patient factors such as age, comorbidities and disease severity play a role in therapeutic selection.

Lupus erythematosus (LE) is an autoimmune disease that has a constellation of clinical manifestations from cutaneous to multi-organ systemic involvement. Childhood-onset SLE is an uncommon, lifelong autoimmune disease that is difficult to diagnose due to its multisystem involvement and multiplicity of clinical manifestations. In children, adolescent girls are most commonly affected with a peak incidence at about 12 years of age. Bullous Systemic Lupus Erythematosus (BSLE) is a rare manifestation of SLE with few cases described in childhood.

We report a case of a 6-year-old girl with an unrecalled history of chronic livedo re:cularis and a 3-month history of non-scarring alopecia who developed multiple minimally pruritic vesicles on the face and neck. The lesions increased in number, size, and distribution, becoming excoriated. The Nikolsky and Asboe-Hansen signs were negative. There was noted oral mucosal involvement and bilateral knee pain at rest with no joint swelling. A 3-mm skin punch biopsy of a vesicle from the upper back revealed an intraepidermal blister. Direct immunofluorescence of perilesional skin showed linear deposits of IgG (+2), C3 (+2), granular IgM (+2), Linear IgA and granular fibrinogen (+2) at the basement membrane zone, consistent with bullous systemic lupus erythematosus. ANA was positive at 1:160 (speckled pattern). We started the patient on dapsone 1.5 mg/kg/day. The patient was co-managed with Pediatric Rheumatology and oral prednisone at 2 mg/kg/day, hydroxychloroquine 50 mg once a day, mycophenolate mofetil 750 mg once a day and enalapril 5 mg once a day were prescribed. The lesions became dry and flat and healed without scarring with no new eruptions noted.

BSLE is uncommon in younger individuals. They usually present with a widespread symmetrical distribution of vesicular skin lesions and frequently favor the sun-exposed areas. We present here a rare case of BSLE in a young individual with an unusual histologic presentation. Treatment with dapsone, corticosteroids, hydroxychloroquine and mycophenolate mofetil afforded complete resolution in our case.

We report a case of a Filipino child who presented with yellowish hyperkeratotic plaques on the palms and soles with palmar transgredient extension to the wrists, a yellowish hyperkeratotic plaque over the coccygeal area, and brownish-black hyperkeratotic perianal plaques. Patient had delayed physical development and short stature, but no intellectual disability. Histopathologic examination showed palmoplantar keratoderma. These clinical findings of symmetrical palmoplantar keratoderma with periorificial keratotic plaques were consistent with Olmsted Syndrome. Oral retinoids with topical keratolytics afforded significant improvement with increased hand mobility. Although there is no curative management for these patients, current experimental therapies like epidermal growth factor receptor (EGFR) inhibitors and Transient Receptor Potential Vanilloid-3 (TRPV3) antagonists are promising. Olmsted Syndrome is a rare genodermatosis with 73 cases officially reported as of this writing. This is the first case to be reported from the Philippines.

Netherton Syndrome (NS) is characterized by a triad of congenital ichthyosiform erythroderma, trichorrhexis invaginata, and atopic diathesis. Diagnosis of NS poses a challenge due to its variable presentation and overlap with other dermatological conditions. Herein, we report a case of NS in a sibling pair, underscoring the challenges in diagnosis and genetic implications of this condition.

We present a case of an 8-year-old female and a 7-year-old male sibling pair, with Netherton Syndrome, who initially presented with atopic dermatitis and erythroderma without hair shaft abnormalities. Further investigation and genetic testing revealed homogeneous SPINK5 gene mutations in both patients, leading to the diagnosis of NS.

Early recognition and diagnosis of Netherton Syndrome are essential for proper management. In patients with early-onset atopic dermatitis resistant to treatment and recurrent erythroderma, further investigation is needed to exclude other diagnoses like Netherton Syndrome.

Pilomatricoma, a benign tumor arising from hair follicle matrix cells, commonly appears as a slow-growing, firm, nontender nodule on the head and neck region. This report describes an atypical variant of pilomatricoma in a 12-year old Filipino female who presented with a 4-week history of a solitary rapidly-enlarging nodule morphologically resembling a proliferating keratoacanthoma on the right arm. Histopathologic diagnosis of pilomatricoma with suppurative and granulomatous inflammation was made and wide local surgical excision was done. This article highlights the importance of including pilomatricoma in the differential diagnosis of pediatric patients presenting with a firm, solitary, rapidly-growing nodule on sites other than the head and neck region.

Xanthomas are lipid-rich lesions that signal underlying dyslipidemias. From 2011 to 2022, the Philippine Dermatological Society reported 276 cases, with only 22 occurring in pediatric patients. Familial hypercholesterolemia (FH) is an autosomal dominant disorder with two variants. This case features interdigital xanthomas between the thumb and index finger, which are pathognomonic for the homozygous form and are associated with a higher risk of cardiovascular disease than the heterozygous form.

A 9-year-old girl presented with a two-year history of multiple, asymptomatic, yellowish papules and plaques on her elbows and knees, with no prior trauma or treatment. Interim, new plaques developed in flexural areas, prompting her consultation. Examination revealed yellowish lesions in the webspaces of both hands, knees, elbows, antecubital fossa, and popliteal fossa. Family screening indicated a history of hypercholesterolemia. The lipid profile confirmed hypercholesterolemia, low HDL, and a fourfold elevation of LDL, indicating three times the average risk for cardiovascular disease. Biopsy was consistent with xanthoma. The patient was started on Simvastatin 20 mg daily, along with dietary modifications and exercise recommendations. Family members were also screened. Follow-up tests showed decreased cholesterol and LDL levels, along with reduction in lesion size.

This case underscores the need to recognize xanthomas as indicators of FH. Although many individuals are affected, awareness of the condition is alarmingly low. Xanthomas should not be regarded as mere cosmetic lesions but as warning signs of other underlying conditions that necessitate prompt intervention. Implementing universal screening for children, along with cascade screening for family members is vital.

Proteus syndrome (PS) is a mosaic disorder characterized by asymmetric overgrowth of a variety of tissues. Diagnostic criteria established in 1999 emphasized the mosaic distribution of lesions, progressive course, and disproportionate overgrowth. We present a case of proteus syndrome in a 12-year-old Filipino male with 9 year-history of enlargement of the left foot with soft, non-tender mass on the sole with a brain-like surface. Skin punch biopsy of the mass showed cerebriform connective tissue nevi which is pathognomonic of PS.

PS is a very rare disease with prevalence of less than 1 in 1,000,000 live births. Management of PS is extremely challenging, owing to the combination of the individuality of each case, the severity of the disease, and the risks of complications from procedures. A multidisciplinary clinical approach is strongly recommended to obtain the best possible management plans for individual patients.

Lymphangioma is a rare vascular malformation, comprising about 4% of such anomalies. Its most common symptom is swelling, which often leads to cosmetic deformity. The most prevalent subtype, lymphangioma circumscriptum, seldom presents on the vulvar area, making treatment especially challenging due to potential complications and recurrence risks.

This is a case of a 10-year-old Filipino female, otherwise healthy, who presented with progressively enlarging, tender, “frog spawn”-like papules on the left vulva since birth. These papules showed partial improvement following surgical excision. Histopathological examination confirmed the diagnosis of lymphangioma. Over the past year, the patient experienced recurrence of papules, resulting in vulvar asymmetry and labial swelling. Pelvic magnetic resonance imaging (MRI), ultrasound, and fine needle aspiration biopsy, revealed multiple superficial and deep cystic masses consistent with lymphangioma. Long-pulsed Nd:YAG laser was administered to the external lesions, yielding partial improvement. Subsequently, she underwent ultrasound-guided sclerotherapy with bleomycin under local anesthesia.

This procedure, performed by interventional radiology, successfully resolved the deep cysts and swelling after two sessions, with no reported complications.

In cases of cutaneous lymphangioma, especially in anatomically sensitive regions like the vulva, imaging plays a crucial role in determining lesion depth and guiding treatment to minimize recurrences. Although no local literature is available, this case highlights the effectiveness and safety of ultrasound-guided sclerotherapy with bleomycin as a novel treatment option for lymphangioma.

Paradoxical response to anti-tuberculosis treatment, defined as clinical or radiologic worsening of pre-existing lesions or the development of new lesions while ongoing treatment, poses diagnostic dilemma. Intestinal perforation as a paradoxical response is rare. We report a 10-year-old female who presented with recurrent abdominal pain, anorexia, and bloody diarrhea, and was diagnosed with disseminated tuberculosis. She had marked improvement after one month of anti-tuberculosis treatment but developed a recurrence of initial symptoms on the third month of therapy and was treated for cecal perforation. Histopathology of cecum revealed chronic granulomatous inflammation. The patient improved after the surgery and the resumption of anti-tuberculosis medications. Recognition of paradoxical reactions and differentiating it from drug resistance of other pathology is important as these necessitates different management strategies.
Human ; Female ; Child: 6-12 yrs old ; intestinal perforation

Lymphomatoid Papulosis (LyP) is a rare skin disorder characterized by chronic, recurrent papules and nodules that heal spontaneously. This report discusses an 8-year-old Filipino female with a three-month history of erythematous pruritic papules evolving into plaques. A skin biopsy confirmed CD30-negative LyP, and treatment with Methotrexate resulted in significant improvement of the lesions. This case illustrates the complex diagnostic and therapeutic journey of LyP in children, emphasizing the importance of careful clinicopathologic correlation and the challenges of management due to the lack of curative therapy and the risk of malignant transformation.