Pili Annulati: a Report of 2 American Families
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Pili Annulati: A Report of 2 American Families David R. Berk, MD; Susan J. Bayliss, MD; Kathrin A. Giehl, MD Practice Points Pili annulati is characterized by a banded or speckled appearance due to alternating light and dark bands, mostly on scalp hair. Inheritance of pili annulati may be autosomal dominant or sporadic. Pili annulati should be distinguished from conditions such as pseudopili annulati, bubble hair, pili torti, and monilethrix. Pili annulati (PA) is a rare, benign, autosomal- the light bands correlate with dark air-containing dominant or sporadic hair shaft disorder charac- spaces on light microscopy (LM), which can be veri- terized by scalp hair with a banded or speckled fied as air-filled cavities within the cortex on electron appearance. We present CUTIS2 American families microscopy (EM).2,3 Inheritance of PA may be auto- with PA and highlight the characteristic clinical somal dominant or sporadic. The usual age of onset is and microscopic features. Among the 2 families, 2 years or older with a lifelong duration and normal a total of 11 individuals with PA were identified, hair growth. The banding pattern is more apparent spanning 3 generations in family 1 and 4 genera- with fair-colored hair or age-related graying, but indi- tions in family 2. viduals who present at a younger age tend to have Cutis. 2013;91:254-257. more severe phenotypes.3 Banding may be subtle or Do Notonly detectedCopy on LM. A range of 20% to 80% of scalp hairs may be affected. Involvement of beard, axil- ili annulati (PA), or ringed hair, is a rare benign lary, or pubic hair is not common.4 Banding occurs at hair shaft disorder that was first described by irregular intervals along the hair shaft5 and becomes PAnton Karsch in his 1846 dissertation and less frequent distally along the hair shaft.3 We present was first cited in the English language literature by 2 American families with PA and highlight the char- Landois1 in 1866. Pili annulati is characterized by a acteristic clinical and microscopic features. The PA banded or speckled appearance due to alternating in the proband of family 1 was incidentally discovered light and dark bands, mostly on scalp hair. Clinically, when she presented with telogen effluvium. Case Reports Dr. Berk was from and Dr. Bayliss is from the Departments of Internal Family 1—A 10-year-old white American girl pre- Medicine and Pediatrics, Washington University School of Medicine, sented with mild diffuse hair loss from the roots of Missouri, and St Louis Children’s Hospital, Missouri. Dr. Berk 2 months’ duration. Hair growth was normal with- currently is from Allergan, Inc, Irvine, California. Dr. Giehl is from the Department of Dermatology, Ludwig-Maximilians-University, out increased fragility. She had a history of Graves Munich, Germany. disease that was treated with radioablation 9 months Dr. Berk is an employee of and owns stock in Allergan, Inc. This earlier, and she was taking levothyroxine sodium for work was not supported or sponsored by Allergan, Inc. Drs. Bayliss the last 3 months for hypothyroidism. The family and Giehl report no conflict of interest. on her father’s side were of German descent. Family Correspondence: Susan J. Bayliss, MD, Division of Dermatology, Departments of Internal Medicine and Pediatrics, Washington history was notable for Graves disease in her pater- University School of Medicine, 660 S Euclid Ave, Campus Box 8123, nal grandmother, hypothyroidism in her maternal St Louis, MO 63110. grandmother, alopecia areata in her maternal cousin, 254 CUTIS® WWW.CUTIS.COM Copyright Cutis 2013. No part of this publication may be reproduced, stored, or transmitted without the prior written permission of the Publisher. Pili Annulati and androgenetic alopecia on her paternal side. On No clinical banding could be found on other body physical examination, her scalp hair was blonde- hair, but she was prepubertal. Light microscopy brown with a speckled appearance (Figure 1A). Hair examination revealed a banded appearance on her from all sections of her scalp was clinically affected. scalp hair with dark air-containing spaces in the cortex (Figure 1B). Further evaluation of her medi- cal history revealed that the banded appearance was initially noticed at 2 years of age. Her brother, father, 2 paternal uncles, and paternal grandfather were similarly affected (Figure 1C); however, the affected hair was only present on the scalp without concerns of hair fragility or hair loss, except for androgenetic alopecia. Medical evaluation also revealed that she was diagnosed with telogen effluvium related to her thyroid disease. Her hair loss resolved within 1 month after her evaluation without changes in her PA. Clinical examination and LM of the hair of her brother and grandfather confirmed familial PA. The proband and her brother appeared to demonstrate A strong phenotypes, as the entire scalp and all scalp hair tested were affected. The phenotypic severity of her grandfather’s disease was difficult to assess due to his concomitant androgenetic alopecia and short hair. CUTISHair brought in from her father was tested using LM Do Not Copy B Affected A individual * * Affected individual * * * * P P C Figure 1. Blonde-brown scalp hair with a speckled B appearance on physical examination of a 10-year-old girl (the proband)(A). Light microscopy revealed a banded Figure 2. Scalp hair with alternating light and dark appearance on her scalp hair with dark air-containing bands along individual hair shafts that created a shiny spaces in the cortex (B). The proband (arrow) had a fam- appearance in the light in a 29-year-old woman (the ily history of pili annulati; asterisk indicates the individual proband)(A). The proband (arrow) had a family history of was clinically examined (C). pili annulati (B). WWW.CUTIS.COM VOLUME 91, MAY 2013 255 Copyright Cutis 2013. No part of this publication may be reproduced, stored, or transmitted without the prior written permission of the Publisher. Pili Annulati and no clinical examination was performed. Family Pili annulati seems to be associated with mild vari- history also included narcolepsy in her father and able hair fragility, even though patients affected with 2 paternal uncles. PA do not report increased hair fragility and reports Family 2—A 29-year-old white American woman in textbooks classically have stated that PA is not contacted one of the authors (K.A.G.) with a con- associated with increased hair fragility.3,13 None of the cern of beaded hair that she had observed since individuals in our report had noticed increased hair 13 years of age. The patient described her hair as fragility. In particular, the nodes or places of air-filled strange and observed alternating light and dark bands cavities in PA may be weak, which predisposes the along individual hair shafts that created a shiny hair to hair shaft breakage with trauma.3,5,13 There was appearance in the light (Figure 2A). Her hair did no difference in tensile strength in a study of 1 family, not grow longer than shoulder length and was always but breakage always occurred at the nodes.5 Features straight. Her aunt worked in a forensics laboratory of weathering have been observed on EM, including with access to the Internet and medical literature, and regular indentations or longitudinal curtainlike folds she offered a diagnosis of PA. The patient contacted along the hair shaft with intact cuticular cells.3,13 us with questions about possible associated symptoms. Rarely, cases have demonstrated severe abnormali- Her family was of French and German descent. Her ties at the nodes with damaged cuticle and cortex mother, uncle, maternal grandmother, and daughter and trichorrhexis nodosa–like breaks.13 Atomic force also were diagnosed with PA (Figure 2B), which was microscopy has demonstrated that dark bands are confirmed by LM. Her family reported no other medi- stiffer to the naked eye than light bands, whereas light cal conditions and no concerns of hair loss or pigment bands are comparable in stiffness to control hair.14 changes in their hair. The differential diagnosis of PA includes pseudo- pili annulati (PPA),15,16 bubble hair, pili torti, and Comment monilethrix. The affected hair in PPA demonstrates a In PA, light bands to the naked eye correspond to banded appearance similar to PA. Pseudopili annulati dark air-containing bands on LM, which can be veri- likely is a variant of normal with no reports of famil- fied by EM.2,5,6 The air-filled cavities reflect scattered ial cases or comorbid conditions. Banding in PPA is light, thus appearing darker onCUTIS LM.2 Hair shaft caliber caused by optical effects related to twisted hair with is normal. Suspected PA bands must be closely dis- unusual geometry. On LM, PPA does not demonstrate tinguished from an interrupted pigmented medulla.7 the dark air-containing bands that are characteristic Electron microscopy also may reveal longitudinal of PA.15,16 The fibers have elliptical cross-sections gaps between cortical macrofibers.3,8 Transmission EM and partial twisting. Pseudopili annulati otherwise is demonstrates a reduplicated lamina densa in the hair normal on EM. In PPA, the banded appearance only root bulb, and the basement membrane zone appears is seen if light strikes at a 90° angle to the hair’s long unusuallyDo wavy with immunohistochemical Not stains axis (transverseCopy illumination). In contrast, the band- using antibodies to its structural components.9 These ing in PA is apparent with light from all angles but is results suggest that the primary defect in PA may best seen with longitudinal illumination.15,16 Bubble involve proteins that are important in the assembly hair is caused by the use of hot blow-dryers and curl- of the basement membrane zone.