Rothmund-Thomson syndrome (RTS) is a rare, autosomal recessive disorder characterized by early onset of progressive poikiloderma, cutaneous and extracutaneous findings including sparse hair, juvenile cataracts, short stature, skeletal defects, hypogonadism, dystrophic teeth and nails.
This is a case of a 4-year-old boy who developed at 2 months of age, reticulated erythematous macules and patches over predominantly sun-exposed areas such as the malar areas, ears, neck, extensor surfaces of the forearms and legs. This later on progressed into poikilodermatous lesions associated with sparse scalp hair, eyebrows, eyelashes and short stature. This is a report on the first documented Filipino patient diagnosed with RTS.

Human ; Male ; Child Preschool ; Atrophy ; Cataract ; Connective Tissue Diseases ; Dwarfism ; Eyebrows ; Eyelashes ; Forearm ; Hypogonadism ; Leg ; Nails ; Rothmund-thomson Syndrome ; Scalp ; Skin Diseases

BACKGROUND: Psoriasis is a chronic inflammatory disease that also predisposes patients to metabolic syndrome and its components, most prevalent of which is hyperlipidemia. Statins are well-known cholesterol-lowering agents, which recently have been shown to have immunomodulatory and anti-inflamamtory effects.
OBJECTIVES: To determine the efficacy of simvastatin in the treatment of chronic plaque type psoriasis through the evaluation of Psoriasis Area and Severity Index (PASI), Physician Global Assessment Scores (PGA) and Dermatology Life Quality Index (DLQI), its effects on lipid profile and its adverse effects.
METHOD: Thirty (30) psoriasis patients, with lesions affecting at least 10% body surface area (BSA) were randomly assigned to take simvastatin 40mg/tablet or placebo tablet with application of 5% liquor carbonis detergens in petrolatum for both study groups. Patients were assessed at 4th and 8th week of treatment. Baseline data determined include patient's age, sex, previous medications, underlying diseases, weight, height, body mass index (BMI), PASI, PGA, DLQI, SGPT, SGOT and lipid profile. At 4th and 8th week of treatment, PASI, PGA, DLQI, SGPT, SGOT were obtained with addition of lipid profile, weight, height, and BMI at 8th week. The adverse reactions were also determined.
RESULTS: At 4th week of treatment, 80% in the simvastatin group demonstrated moderate improvement (based on 51-74% PASI score reduction) and 20% had mild improvement (PASI 25-50), while 40% in the placebo group showed mild improvement and 60% had no response to treatment (PASI<25). At 8th week of treatment, 66.7% in the simvastatin group had marked improvement (PASI ?75), 26.7% moderate improvement, and 6.65% mild improvement, while only 6.7% in the placebo group showed marked improvement, 13.3% moderate improvement, 60% mild improvement, and 20% with no response to treatment. The simvastatin group compared to placebo group demonstrated significant decrease in mean PGA scores at 4th and 8th week of treatment with p values of <0.001. The DLQI scores from the simvastatin group compared to the palcebo group showed significant decrease at 4th (p=0.01) and 8th week of treatment (p<0.001). Simvastatin patients at 8th week showed decline in total cholesterol (p<0.00001), triglycerides (p<0.05), low-density lipoprotein (p=0.05) while the high-density lipoprotein had significantly increased (p=0.05). The placebo group did not show any change in total cholesterol (p=0.22), low-density lipoprotein (p=0.60), triglycerides (p=0.44), and high-density lipoprotein (p=0.47). There were no adverse reactions noted due to simvastatin.
CONCLUSION: This randomized controlled trial showed that daily intake of 40 mg simvastatin was effective in the treatment of chronic plaque type psoriasis based on PASI,PGA and DLQI.

Human ; Male ; Female ; Aged ; Middle Aged ; Adult ; Young Adult ; Hyperlipidemias ; Lipoproteins, Hdl ; Lipoproteins, Ldl ; Petrolatum ; Psoriasis ; Simvastatin ; Triglycerides