In patients with darker skin types (Fitzpatrick phototypes III-VI), acne is often accompanied by post-inflammatory hyperpigmentation (PIH). Further, acne-related pigmentation can pose a greater concern for the patient than the acne lesions. There has been little formal study of this acne-related PIH. Recently, the Asian Acne Board - an international group of dermatologists with interest in acne research - made a preliminary evaluation of the frequency and characteristics of PIH in seven Asian countries. A total of 324 sequential acne subjects were evaluated for the presence of PIH. The majority (80.2%) of subjects had mild to moderate acne and there were more females than males (63.0% vs 37.0%). In this population of patients consulting a dermatologist for acne, 58.2% (188/324) had PIH. The results also showed that pigmentation problems are often long lasting: at least 1 year for more than half of subjects and 5 years or longer in 22.3%. In accordance with our clinical experience, patients reported that PIH is quite bothersome, often as bothersome or more so than the acne itself and sometimes more problematic. Excoriation was commonly reported by patients, and may represent a modifiable risk factor that could potentially be improved by patient education.
A 20-year-old man of Indo-Malaysian ancestry presented with a complaint of increased facial pigmentation that he first noticed at age 13. He had congenital adrenal hyperplasia (21-hydroxylase deficiency, salt-wasting variant; OMIM 201910), diagnosed during infancy. Glucocorticoid and mineralocorticoid therapy was started at that time, but he had several episodes of salt craving during adolescence. During the past 7 years, the degree of facial pigmentation waxed and waned but never returned to baseline of early adolescence. Progressive skin darkening was also observed in annual family photos, which also showed a vast difference in skin tones between the patient and other members of his immediate family.
Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) are established subgroups of mitochondrial encephalomyopathy. m.3243A>G a common point mutation is detected in tRNA in majority of patients with MELAS phenotype whereas m.8344A>G point mutation in tRNA is observed, in MERRF phenotype. Adrenal insufficiency has not been reported in mitochondrial disease, except in Kearns-Sayre Syndrome (KSS), which is a mitochondrial deletion syndrome. We report an unusual presentation in a five year old boy who presented with clinical phenotype of MELAS and was found to have m.8344A>G mutation in tRNA. Addison disease was identified due to hyperpigmentation of lips and gums present from early childhood. This is the first report describing adrenal insufficiency in a child with MELAS phenotype.