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.

Human ; Male ; Child: 6-12 Yrs Old ; Keratoderma, Palmoplantar ; Acitretin

Introduction: IgA pemphigus is a rare, distinct variant of Pemphigus characterized by vesiculopustular eruptions mediated by IgA autoantibodies targeting keratinocyte cell surface antigens, desmocollins 1-3 and sometimes desmogleins 1 and 3. Its classical features have been described in literature but atypical cases have also been documented. This report presents such case posing a diagnostic dilemma. Case Report: A 35-year-old female presented with a 16-year history of intermittent eruptions of multiple hyperpigmented, annular and circinate, desquamating plaques and coalescing flaccid pustules on erythematous bases on the scalp, neck, trunk, and extremities. Histopathologic examination revealed subcorneal pustular dermatitis, and direct immunofluorescence was positive for granular intercellular IgG and IgA deposits in the epidermis. Antinuclear antibody test was negative and C3 level was normal. Antibody tests against desmogleins 1 and 3 were both negative. Topical potent corticosteroid therapy resulted in complete resolution of all lesions in three weeks. Conclusion Diagnostic dilemmas arise when laboratory results do not correlate with clinical findings. Findings of IgA autoantibodies in patients with pemphigus-like skin eruptions led to the diagnosis of subcorneal pustular dermatosis type of IgA pemphigus. Dapsone is the treatment of choice although topical potent corticosteroid alone may provide complete remission in some cases, avoiding the potential adverse effects of systemic therapy
Skin Diseases, Vesiculobullous