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CASE REPORT
Year : 2014  |  Volume : 15  |  Issue : 3  |  Page : 127-129

Brittle hair and ichthyosis in the newborn: A case of Tay syndrome


Department of Medicine, Section of Dermatology, University of the Philippines-Philippine General Hospital, Manila, Philippines

Date of Web Publication30-Oct-2014

Correspondence Address:
Paula Karina N Gonzales-Carait
Department of Medicine, Section of Dermatology, University of the Philippines-Philippine General Hospital, Taft Avenue, Manila
Philippines
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/2319-7250.143669

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  Abstract 

Tay syndrome is a rare autosomal recessive disorder characterized by brittle hair and congenital ichthyosis. It is one of the syndromes of trichothiodystrophy - a group of DNA repair disorders with wide range of phenotypic expressions unified by the presence of sulfur-deficient brittle hair. Currently, prevalence of Tay syndrome is unknown. Approximately, only 75 reported cases are reported worldwide and 15 case reports published on this condition; there are no cases reported in the Philippines. Because the hair and skin are involved, dermatologists play an important role in both diagnosis and the multidisciplinary management of patients.

Keywords: Congenital ichthyosis, Tay syndrome, trichothiodystrophy syndrome


How to cite this article:
Gonzales-Carait PN, Nicolas MO. Brittle hair and ichthyosis in the newborn: A case of Tay syndrome. Indian J Paediatr Dermatol 2014;15:127-9

How to cite this URL:
Gonzales-Carait PN, Nicolas MO. Brittle hair and ichthyosis in the newborn: A case of Tay syndrome. Indian J Paediatr Dermatol [serial online] 2014 [cited 2020 Oct 21];15:127-9. Available from: https://www.ijpd.in/text.asp?2014/15/3/127/143669


  Introduction Top


A 2-day-old male was born with brittle hair and collodion membrane which upon desquamation, revealed generalized ichthyosis and mild erythema. Patient also had microcephaly, short stature, cryptochordism, progeria-like facies and recurrent respiratory tract infections. On polarized microscopy, trichoschisis and characteristic "tiger-tail" alternating dark and light banding pattern of the hair shaft were seen.


  Case report Top


A 2-day-old Filipino male was born full term to a 28 year old G3P2 (2002) via spontaneous vaginal delivery. Patient's mother noted a clear membrane was covering the entire body of the patient immediately after birth, which slowly peeled off and was replaced with diffuse desquamation underlying an erythematous skin on the patient's 1 st day of life.

Physical examination showed patient to be small for gestational age and microcephalic. He also had bilateral low-set ears, ectropion, yellowish foul-smelling discharge on the umbilical stump, left undescended testes, with normal neurologic examination. Focused dermatologic examination revealed generalized mild erythema with desquamation, fissures on the inguinal area, shiny and taut skin on knees and scalp with minimal scaling [Figure 1] and [Figure 2]. Hair was wiry, brittle and sparse; it would easily break and fall off once lightly touched [Figure 3].
Figure 1: Patient at 2nd day of life. He has generalized fine scaling with slight erythema

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Figure 2: Closer view of lower extremities which shows the generalized fine scaling with slight erythema. Note skin on knees are shiny and taut, indicating presence of collodion membrane at birth

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Figure 3: Closer view of patient's face which shows generalized fine scaling, wiry and brittle hair, and ectropion

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Skeletal survey showed microcephaly. Skin punch biopsy on the right thigh revealed presence of an orthokeratotic, cornified layer with evidence of granular cell layer, consistent with ichthyosis. Light microscopy of the hair shaft showed irregular undulating hair shaft with trichoschisis. Polarized light microscopy showed alternating light and dark colored banding, or "tiger-tail pattern," consistent with trichothiodystrophy (TTD) [Figure 4].
Figure 4: Polarized light microscopy of hair shaft showing "tiger-tail" alternating light and dark banding

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On follow-up on the 1 st , 4 th and 5 th month of age of the patient, patient was noted to have persistent respiratory infection, below normal anthropometric measurements, and generalized xerosis. Hair persisted to be wiry and brittle, and was sparser every visit [Figure 5]. Patient had alopecia on the frontal, temporal and vertex of the scalp.
Figure 5: Progression of alopecia noted from birth until 5 months of age

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  Discussion Top


Trichothiodystrophy is a term which encompasses autosomal recessive sulfur deficient brittle hair syndromes. [1] Several acronyms have been proposed to describe the different clinical features of TTD patients - Photosensitivity, Intellectual impairment, Brittle hair, Decreased infertility, Short stature (PIBIDS), IBIDS, BIDS. Tay syndrome was coined in 1971 to describe the association of brittle hair and ichthyosiform erythroderma.

Incidence of Tay syndrome is rare. Exact number of patients with Tay syndrome is unknown, but there are only 15 case reports published of this condition. [2],[3] It is said that there are approximately only 75 cases reported worldwide. [2],[3] This is the first case reported in the Philippines.

Despite the wide range of clinical findings, the key findings to Tay syndrome include brittle, sparse, low-sulfur hair with fine white scale with generalized mild erythema of the skin. Other associated findings may include short stature, progeria-like facies, history of collodion membrane at birth, hypogonadism, microcephaly, increased susceptibility to infections, intellectual impairment, delayed neuromuscular development, cataract, spacticity, ataxia and decreased reflexes to name a few; the first six of which were present in our case. [4]

Characteristic abnormalities on neuroectodermal derived organs such as the skin and central nervous system (CNS) among patients with TTD is due to mutations in genes encoding three subunits: ERCC2/XPD (in chromosome 19q13.32), ERCC3/XPB (chromosome 2q14.3) and GTF2H5. This mutation causes abnormal production of transcription factor II H. [5] This leads to decreased sulfur matrix proteins - cysteine and methionine - which are both important in the cystine-cystine disulfide linkages. The deficiency in cystine explains the fragility and the regular undulation of the hair shaft of patients with TTD, appreciated as the characteristic tiger-tail banding pattern on polarized microscopy. Deficiency of high sulfur-containing myelin molecules, neurocan and phosphocan, leads to defects in the CNS. [2]

The diagnosis of TTD syndromes is based mainly on clinical findings. The key finding is brittle hair with low-sulfur content; however, alternating dark, and light bands (tiger-tail pattern) under polarizing microscopy, trichoschisis, and absent or defective cuticle are additionally important clues for the diagnosis of TTD.


  Conclusion Top


Trichothiodystrophy and Tay syndrome are rare; it should be included among the differential diagnosis when presented with newborns with congenital ichthyosis. The importance of performing a complete and thorough physical examination is reemphasized in this case, so as not to miss the characteristic brittle and wiry hair among these patients.

 
  References Top

1.Jiménez-Puya R, Moreno-Giménez JC, Camacho-Martínez F, Ferrando-Barbera J, Grimalt R. Trichothiodystrophy: PIBIDS syndrome. Actas Dermosifiliogr 2007;98:183-7.  Back to cited text no. 1
    
2.Jambhekar SD, Dhongade AR. Tay syndrome. Indian J Pediatr 2008;75:288-90.  Back to cited text no. 2
    
3.Wiedemann HR, Kunze J, Grosse FR. Clinical Syndromes. 3 th ed. Italy: Mosby-Wolfe; 1997.Itin PH, Sarasin A, Pittelkow MR. Trichothiodystrophy: Update on the sulfur-deficient brittle hair syndromes. J Am Acad Dermatol 2001;44:891-920.  Back to cited text no. 3
    
4.Itin PH, Sarasin A, Pittelkow MR. Trichothiodystrophy: Update on the sulfur-deficient brittle hair syndromes. J Am Acad Dermatol 2001;44:891-920.  Back to cited text no. 4
    
5.Faghri S, Tamura D, Kraemer KH, Digiovanna JJ. Trichothiodystrophy: A systematic review of 112 published cases characterises a wide spectrum of clinical manifestations. J Med Genet 2008;45:609-21.  Back to cited text no. 5
    


    Figures

  [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5]



 

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Abstract
Introduction
Case report
Discussion
Conclusion
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