Netherton Syndrome (AKABamboo Hair Syndrome) is a non treatable, Autosomal Recessive Disorder of infancy and childhood, so has no sex predilection. Family history may reveal consanguinity. There is triad A] Ichthyosiform linearis circumflexa B] Hair Shaft Defect like trichorrhexis invaginata & C] Atopic Diathesis. Caused by mutation in Serine Protease Inhibitor Kazal type 5 gene (SPINK5), which...

Monilethrix or beaded results from a genetic abnormality of defective hair shaft formation. The altered genetics leads to improper, inefficient, incorporation of structural proteins, minerals during hair shaft formation resulting in weak, brittle hair. Other hair shaft disorders like pili torti, pili trianguli, trichorrhexis nodosa, trichorrhexis invaginata and pili annulati, rolled hair and ci...

Hair serves as a social sign of gender, age, status, values, and group membership. Hair is a major part of one's self-identity, and central to one's feeling of personal attractiveness. Treating a patient with hair loss and/or hair issues is not easy because of psychosocial overtones and patients' distress and body image concerns. In this paper, several common hair diseases will be discussed in ...

PURPOSE To determine the relationship between pili annulati (PA) and acquired trichorrhexis nodosa (TN) seen in the same patient, considering the two main theories evoked by previous studies: greater stiffness of darker PA bands or associated cuticular damage. PROCEDURES Light microscopy of hair shafts from different regions of the patient's scalp. RESULTS TN was not superimposed to dark ba...

Syndromic diarrhea (SD), also known as phenotypic diarrhea (PD) or tricho-hepato-enteric syndrome (THE), is a congenital enteropathy presenting with early-onset of severe diarrhea requiring parenteral nutrition (PN). To date, no epidemiological data are available. The estimated prevalence is approximately 1/300,000-400,000 live births in Western Europe. Ethnic origin does not appear to be assoc...