RESUMEN
Epidermolysis bullosa (EB) is a group of rare genetic diseases that exhibit mechanical fragility of the skin. This condition will result in the occurrence of skin blisters, skin erosions, and skin ulcerations when the skin is subjected to trauma. In this case report, we present a case of EB and multiple skeletal deformities in a 21-year-old female. She came to our clinic with recurrent skin exfoliations and blisters that occurred since she was 4 years old and multiple bones bowing since she was 9 years old. On physical examinations, we found generalized hypopigmentation macule with erythematous skin. There were numerous bullae and crusted lesions, with erosion and excoriations on the lesions. Laboratory examinations identified low vitamin D 25-OH (8.6 ng/mL). Bone densitometry measurement found low bone density, and X-ray examination found osteopenia and bone bowing. Using whole-exome sequencing, no causative pathogenic sequence or copy number variants in the genes associated with Mendelian inherited disorders were detected. The low levels of vitamin D 25-OH may most likely be the main reason for the occurrence of rickets in this patient aside from the genetic disorder.
RESUMEN
PURPOSE: One of the most serious and devastating complications of diabetes mellitus is diabetic ulcers. They are difficult to treat and often result in limb loss. Topical sucralfate and platelet-rich plasma have the potential to improve the healing outcomes of chronic ulcers, including diabetic ulcers. This research aims to determine the effectiveness of sucralfate and platelet-rich plasma therapy for the improvement of diabetic ulcer wound healing. PATIENTS AND METHODS: Ninety Wistar rats were used in this study and were classified into five groups. Four of the five groups were diabetic induced and were treated with topical sucralfate only, platelet-rich plasma only, combination of topical sucralfate and platelet-rich plasma, and diabetic control group which received standard therapy only. The non-diabetic control group did not receive any therapy. We observed macrophage amount, platelet-derived growth factor, vascular endothelial growth factor, and hypoxia-inducible factor as a biomarker. Rats were terminated after 7th and 14th days and were subjected to immunohistochemistry staining and examination. RESULTS: We found that topical sucralfate and platelet-rich plasma increase macrophage levels, vascular endothelial growth factor expression and platelet-derived growth factor expression in diabetic wound cells. We also found a reduction in hypoxia inducible factor-1α expression. Combination of topical sucralfate and platelet-rich plasma for 14 days gave the most significant improvement in terms of wound healing compared to topical sucralfate or platelet-rich plasma alone. CONCLUSION: The combination of topical sucralfate and platelet-rich plasma therapy results in the best improvement in diabetic ulcer wound healing compared to sucralfate or platelet-rich plasma monotherapy or conventional wound healing therapy.
RESUMEN
Xeroderma pigmentosum (XP) is a rare autosomal recessive disease characterized by hypersensitivity of the skin to ultraviolet radiation and other carcinogenic agents. This ailment is characterized by increased photosensitivity, skin xerosis, early skin aging, actinic keratosis, erythematous lesions, and hyperpigmentation macules. In this serial case report, we presented four cases with XP from two families in Indonesia. Both families were referred from rural referral health centers, and each family has two affected siblings. They had freckle-like pigmentation on the face, trunk, and extremities, which progressed since childhood. One patient of family 2 died because of an infectious disease. Histopathological examination using cytokeratine (CK), CD10, and Ber-EP4 staining from available tissue biopsy of one affected case of family 1 identified basal cell carcinoma (BCC) on the cheek and melanoma on the right eye. Mutation analysis found ERCC2, c2047C>T and XPC, c1941T>A in the first and second families, respectively. We suppose that this is the first case report of XP in Indonesia that incorporates clinical examination, genetic analysis, and extensive histopathological examination, including immunohistochemistry staining, and a novel pathogenic variant of XPC was found in the second family.
