Iron deficiency and diffuse nonscarring scalp alopecia in women: more pieces to the puzzle.

The relationship between nonscarring scalp alopecia in women and iron deficiency continues to be a subject of debate. We review the literature regarding the relationship between iron deficiency and nonscarring scalp alopecia and describe iron-dependent genes in the hair follicle bulge region that may be affected by iron deficiency. We conclude with a description of our approach to the diagnosis and treatment of nonscarring alopecia in women with low iron stores. Limitations include published studies with small numbers of patients, different study designs, and absence of randomized, controlled treatment protocols. Additional research regarding the potential role of iron during the normal hair cycle is needed, as is a well-designed clinical trial evaluating the effect of iron supplementation in iron-deficient women with nonscarring alopecia.

Phenotypic delineation of Emanuel syndrome (supernumerary derivative 22 syndrome): Clinical features of 63 individuals.

Emanuel syndrome is characterized by multiple congenital anomalies and developmental disability. It is caused by the presence of a supernumerary derivative chromosome that contains material from chromosomes 11 and 22. The origin of this imbalance is 3:1 malsegregation of a parental balanced translocation between chromosomes 11 and 22, which is the most common recurrent reciprocal translocation in humans. Little has been published on the clinical features of this syndrome since the 1980s and information on natural history is limited. We designed a questionnaire to collect information from families recruited through an international online support group, Chromosome 22 Central. Data gathered include information on congenital anomalies, medical and surgical history, developmental and behavioral issues, and current abilities. We received information on 63 individuals with Emanuel syndrome, ranging in age from newborn to adulthood. As previously recognized, congenital anomalies were common, the most frequent being ear pits (76%), micrognathia (60%), heart malformations (57%), and cleft palate (54%). Our data suggest that vision and hearing impairment, seizures, failure to thrive and recurrent infections, particularly otitis media, are common in this syndrome. Psychomotor development is uniformly delayed, however the majority of individuals (over 70%) eventually learn to walk with support. Language development and ability for self-care are also very impaired. This study provides new information on the clinical spectrum and natural history of Emanuel syndrome for families and physicians caring for these individuals.