Abstract
A 9-month-old boy presented with the complaints of loose motion, vomiting and difficulty in breathing. His scalp hairs were thin, brittle, and sparse and were of differing lengths with twisted appearance. Hair shaft microscopy revealed alternate light and dark segments and twisting of the hair shafts by 180 degrees along the axis. Serum copper levels were normal. The audiological testing revealed bilateral sensorineural hearing loss. Child was diagnosed as a case of Bjornstad Syndrome.
This is a preview of subscription content, log in via an institution to check access.
References
Bjørnstad R. Pili torti and sensory-neural loss of hearing.Proc Fenno-Scand Ass Derm, Copenhagen 1965:3–12.
Crandall BF, Samec L, Sparkes RS, Wright SW. A familial syndrome of deafness, alopecia, and hypogonadism.J Pediat 1973; 82: 461–465.
Reed WB, Stone VM, Boder E, Ziprkowski L. Hereditary syndromes with auditory and dermatological manifestations.Arch Dermatol 1967; 95: 456–461.
Selvaag E. Pili torti and sensorineural hearing loss. A follow-up of Bjornstad’s original patients and a review of the literature.Eur J Dermatol 2000; 10(2): 91–97.
Richards KA, Mancini AJ. Three members of a family with pili torti and sensorineural hearing loss: The Bjornstad syndrome.J Am Acad Dermatology 2002; 46: 301–303.
Lubianca Neto JF, Lu L, Eavey RD, Macias Flores MA, Martinez Caldera R, Sangwatanaroj Set al. The Bjornstad syndrome (sensorineural hearing loss and pili torti) disease gene maps to chromosome 2q34-36.Am J Hum Genet 1998; 62: 1107–1112.
Galewsky E. Trichokinesis. In JActassohn, edErkrankungen der Haare und des Haarbodens, Handbuch der Haut- und Geschlechtskrankheiten. Bd 13/1,1932:204–6.
Ronchese F. Twisted hairs (Pili torti).Arch Derm Syph 1932; 26: 98–109.
Maruyama T, Toyoda M, Kanei A, Morohasmi M. Pathogenesis inPilli Torti: Morphological study.J Dermatol Sci 1994; 7(suppl): S5-S12.
Cremers, CWRJ, Geerts SJ. Sensorineural hearing loss and pilli torti.Ann Otol Rhinol Laryng 1979; 88: 100–104.
Menkes JH, Alter M, Steigleder GK, Weakly DR, Sung JH. A sex-linked recessive disorder with retardation of growth, peculiar hair, and focal cerebral and cerebellar degeneration.Pediatrics 1962; 29: 764–779.
Sorge G, Pavone L, Polizzi A, Mauceri L, Leonardi RM, Tripi T, Opitz JM. Another “new” form, the Palagonia type of acrofacial dysostosis in a Sicilian family.Am J Med Genet 1997; 69: 388–394.
Rosselli D, Gulienetti R. Ectodermal dysplasia.Brit J Plast Surg 1961; 14: 190–204.
Barbareschi M, Cambiaghi S, Crupi AC, Tadini G. Family with “pure” hair-nail ectodermal dysplasia.Am J Med Genet 1997; 72: 91–93.
Pinheiro M, Freire-Maia N. Trichodysplasia-xeroderma: an autosomal dominant condition.Clin Genet 1987; 31: 337–342.
Patel HP, Unis ME. Pili torti in association with citrullinemia.J Am Acad Dermatol 1985; 12: 203–206.
Lurie R, Danziger Y, Kaplan Y, Sulkes J, Abramson E, Mimouni M. Acquired pili torti a structural hair shaft defect in anorexia nervosa.Cutis 1996; 57: 151–156.
Author information
Authors and Affiliations
Corresponding author
Rights and permissions
About this article
Cite this article
Aggarwal, D., Sardana, K., Kumar, P. et al. Bjornstad syndrome. Indian J Pediatr 71, 759–761 (2004). https://doi.org/10.1007/BF02730670
Issue Date:
DOI: https://doi.org/10.1007/BF02730670