INTRODUCTION: Lamellar ichthyosis is a rare autosomal recessive disorder apparent at birth. Although not life threatening, it is disfiguring and causes considerable psychological stress.
CASE: We report a case of 15-year-old male with generalized, thick, dry, plate-like scales associated with ectropion and eclabium. At birth, he was enclosed in a transparent membrane that spontaneously shed revealing generalized pinkish skin. Non-pruritic plaques developed that evolved into plate-like scales. There was accompanying heat intolerance and tearing of eyes. Two siblings were similarly affected. Histopathologic findings were consistent with lamellar ichthyosis. The patient was treated with retinoic acid lotion and petroleum jelly. After three weeks, 50 percent improvement was noted with decrease in number and thickness of lesions.
CONCLUSION: This lifetime cutaneous disease affects the physical, mental and emotional state ofthe patient. It has no cure and treatment is directed symptomatically. We plan to continue topical treatment in this patient until significant improvement is attained.

Human ; Male ; Adolescent ; Administration, Topical ; Ectropion ; Emotions ; Eye ; Hot Temperature ; Ichthyosis, Lamellar ; Petrolatum ; Physical Examination ; Stress, Psychological ; Tretinoin

Background and Objective: Retinoblastoma is one of the most common intraocular cancers among children usually caused by the loss of retinoblastoma protein function. Despite being a highly heritable disease, conventional diagnostic and prognostic methods depend on clinical examination, with limited consideration of cancer genetics in the standard of care. CD133, KRT19, and MUC1 are commonly explored genes for their utility in liquid biopsies of cancer including lung adenocarcinoma. To date, there are few extensive molecular studies on retinoblastoma in Filipino patients. To this end, the study aimed to describe the copy number of CD133, KRT19, and MUC1 in retinoblastoma samples from a Filipino patient and quantitate the respective expression level of these genes. Methods: Hematoxylin & Eosin (H&E) staining was utilized to characterize the retinoblastoma tissue while fluorescence in situ hybridization (FISH) using probes specific to CD133, KRT19, and MUC1 was performed to determine the copy number of genes in retinoblastoma samples from a Filipino patient (n = 1). The gene expression of CD133, MUC1, and KRT19 was quantitated using RT-qPCR. Results: The H&E staining in the retinoblastoma tissue shows poorly differentiated cells with prominent basophilic nuclei. CD133 was approximately 1.5-fold overexpressed in the retinoblastoma tissue with respect to the normal tissue, while MUC1 and KRT19 are only slightly expressed. Multiple intense signals of each probe were localized in the same nuclear areas throughout the retinoblastoma tissue, with high background noise. Conclusion These findings suggest that CD133 is a potential biomarker for the staging and diagnosis of retinoblastoma in Filipino cancer patients. However, further optimization of the hybridization procedures is recommended.
Retinoblastoma ; Biomarkers ; In Situ Hybridization