Improved molecular diagnosis of the common recurrent intragenic deletion mutation in IKBKG in a Filipino family with incontinentia pigmenti.

Incontinentia pigmenti is a rare, multisystem X-linked dominant genetic disorder caused by mutations in IKBKG, the encoding inhibitor of kappa light polypeptide gene enhancer in B-cells. Almost 80% of all cases result from a recurrent intragenic deletion mutation that removes exon 4-10. At present, this mutation can be detected by a multi-primer polymerase chain reaction (PCR) technique although current protocols may preferentially amplify the wild-type allele and miss the deletion. Here, we report a female infant with incontinentia pigmenti that also affected her mother and sister, and two spontaneously aborted male siblings. We developed a modified PCR amplification method that provides more robust detection of the exon 4-10 deletion mutation, which was demonstrated in all affected females in this pedigree.

Seabather's eruption in two triathletes at Samal Island, Davao, Philippines

Seabather's eruption (SBE) is characterized by pruritic erythematous papules on the covered areas of the body that appear within 24 hours after exposure to seawater. SBE is known to be caused by the planula of a thimble jellyfish (Linuche unguiculata) or a sea anemone (Edward siellalineata). We report cases of two adult male triathletes who developed pruritic erythematous papules on the chest and back after a swim training along the coastal waters of Samal island, Davao City. Examination of samples of the seawater revealed multiple planulae or larval forms of cnidarians. The histopathologic examination revealed moderately dense superficial and deep perivascular and periadnexal inflammatory infiltrates consisting predominantly of lymphocytes, few eosinophils and neutrophils. Treatment with a short course of systemic corticosteroids proved beneficial in both patients. A review of published literature regarding this interesting aquatic sports dermatosis was also conducted.

Squamous cell carcinoma of the scalp: A case report

Nonmelanoma skin cancers are the most common human cancers. To this group basal cell carcinoma and cutaneous squamous cell carcinoma. Squamous cell carcinoma (SCC) is the second most common skin cancer in darkly pigmented patients and majority of the SCC's develop in non-sun exposed areas. We describe a case of a 72-year old male who consulted in the outpatient department of the Research Institute for Tropical Medicine for a 2-month history of non-healing ulcer on the scalp. Histopathologic examination revealed diagnosis of invasive squamous cell carcinoma. Patient was referred for surgical excision.