A case of superficial acral fibromyxoma masquerading as squamous cell carcinoma of the thumb: A case report.

A wide spectrum of tumors may affect the periungual spaces of the digits. Superficial acral fibromyxoma (SAF) is a rare, benign soft tissue tumor with diverse clinical presentations. We present a case of a 55-year-old woman with a 2-year history of a solitary periungual tumor on the left thumb, subjected to multiple episodes of trauma. Initially suspected to be a periungual squamous cell carcinoma (SCC) based on clinical and dermoscopic features, the tumor was confirmed to be a CD34- SAF through histopathology and immunohistochemistry. Although CD34 immunoreactivity is common in SAF, one-third of these tumors, including this case, do not stain for this marker. Periungual SCC considered a "great mimicker of nail tumors," may resemble other benign nail tumors such as SAF. The patient underwent complete surgical excision with primary closure, resulting in no recurrence after 1 year. This case highlights SAF as an underrecognized benign entity that may manifest with features suspicious of malignancy, potentially leading to unnecessarily aggressive interventions. Recognizing SAF through accurate biopsy techniques and thorough histopathologic evaluation, even in the absence of CD34 reactivity, is crucial for appropriate treatment and preservation of hand function and appearance.

A novel XPA splice-site mutation identified in a 4-year-old Filipino girl with xeroderma pigmentosum.

We herein report a case of a 4-year-old Filipino girl initially seen through online consultation from a general physician. She was born to a 22-year-old primigravid mother, with no birth complications nor a history of consanguinity in the family. During the 1st month of life, she developed hyperpigmented macules over the face, neck, upper back, and limbs, which were exacerbated by sun exposure. At 2 years old, she developed a solitary erythematous papule on the nasal area, which gradually enlarged within one year and developed into an exophytic ulcerating tumor extending to the right supra-alar crease. Xeroderma pigmentosum and squamous cell carcinoma were confirmed by whole-exome sequencing and skin biopsy, respectively.

Inflammation in Wound Healing and Pathological Scarring.

Significance: The aberrant inflammation during wound healing results in pathological scarring, such as hypertrophic scars and keloids. This adversely affects the quality of life of patients due to the disfiguring appearance as well as the symptoms of itch and pain. This review summarizes the up-to-date knowledge of the immunopathogenesis and treatment options for pathological scars. Recent Advances: With the advent of new technologies, combined with in vitro and in vivo wound models, several inflammatory cells have been shown to have both direct and indirect effects on both wound healing and pathological scarring. Critical Issues: Expansion of pro-fibrotic immune cells such as M2 macrophages, dendritic cells, mast cells, and Th2 cells leads to fibroblast transition to myofibroblasts via transforming growth factor-ß1 signaling pathway. Appropriate management of such inflammatory responses during wound healing remains a critical issue during clinical practice. Future Directions: Regulating inflammation response during wound healing may be a potential therapeutic option for avoiding or reducing pathological scars.

Diffuse cutaneous systemic sclerosis: A case report

BACKGROUND: Systemic sclerosis (SSc) is a rare, connective tissue  disease  with  multisystem involvement.This is due to immunological processes,vascular endothelial cell injury  and extensive activation of fibrolast that commonly affects the skin and other internal organs such as the esophagus, lungs, heart, and kidneys. SSc has one of the highest mortality among  the  autoimmune  rheumatic  diseases,  hence  the  emphasis  on  the  early  recognition  and  management  to  prevent significant progression of the disease. CASE: A 22-year-old  female  presented  with  a  one-year history of multiple hard and hypopigmented patches on the face, neck, trunk and upper extremities. Further examination revealed mask-like facies, microstomia, frenulum sclerosis, Raynaud's phenomenon, pitted scars on the digital pulp of hands  and  sclerodactyly.Baseline  blood  chemistry,chest radiograph and electrocardiography  were  all  negative  for systemic involvement. Autoantibodies were positive for dsDNA, SS-A/Ro and Scl-70. Skin biopsy revealed sclerosing dermatitis, which was consistent with SSc. OUTCOME: The  patient  was  initially  started  with  oral prednisone 0.5 mg/kg/day and was increased to 0.75 mg/kg/day for eight weeks. Prednisone was slowly tapered to 5.0 mg/day and methotrexate 15.0 mg/week was included in  the  management for eight weeks which resulted in decreased joint pains, halted the progression of skin induration, decreased in pruritus and palmar edema. CONCLUSION: The characteristic dermatological findings of SSc are not only important signs to dermatologists, but these serves as diagnostic clues for clinicians from other disciplines as well. In our case, the presence of the autoantibody Scl-70 indicated the potential risk of pulmonary fibrosis and pulmonary arterial hypertension that accounts with high mortality.Hence,physicians should be aware of the possible risk of organ damage,even when asymptomatic because there is a high risk of disease progression. The importance of early recognition and a multidisciplinary approach lead to the good outcome in this case.

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.