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LETTER TO EDITOR
Year : 2017  |  Volume : 18  |  Issue : 2  |  Page : 133-135

Child and mother with unusual facies: Trichorhinophalangeal syndrome type I revisited


1 Department of Dermatology, R. G. Kar Medical College and Hospital, Kolkata, West Bengal, India
2 Department of ENT, Calcutta National Medical College and Hospital, Kolkata, West Bengal, India

Date of Web Publication27-Mar-2017

Correspondence Address:
Olympia Rudra
Department of Dermatology, R. G. Kar Medical College and Hospital, 1, Khudiram Bose Sarani, Kolkata - 700 004, West Bengal
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/2319-7250.203005

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How to cite this article:
Rudra O, Gangopadhyay A, Biswas SK, Ghosh A, Mandal P, Darung I. Child and mother with unusual facies: Trichorhinophalangeal syndrome type I revisited. Indian J Paediatr Dermatol 2017;18:133-5

How to cite this URL:
Rudra O, Gangopadhyay A, Biswas SK, Ghosh A, Mandal P, Darung I. Child and mother with unusual facies: Trichorhinophalangeal syndrome type I revisited. Indian J Paediatr Dermatol [serial online] 2017 [cited 2020 May 27];18:133-5. Available from: http://www.ijpd.in/text.asp?2017/18/2/133/203005

Sir,

A 10-year-old girl presented to us with fine, sparse scalp hair since early childhood. On examination, frontotemporal alopecia was observed with fine, sparse hair on other part of the scalp. Eyebrows were sparse on the lateral side in comparison to medial aspect. Bulbous nose, everted ears, and large lips with mild receding chin were noticeable [Figure 1]a. Her mother also had similar clinical presentation [Figure 1]b. Clinical examination of both revealed angulation of the digits of hands and feet with brachydactyly and koilonychia [Figure 2]. Developmental milestone, intelligence, height, and weight of the patient were normal. Radiologic examination of the limbs showed angulation of the phalanges [Figure 3]. Systemic examination and routine hematological and urinalysis were noncontributory. A pedigree chart of their family showed similar history was present in her maternal grandfather and great grandfather. However, her maternal uncle and aunt did not have any of these clinical findings [Figure 4]. Based on the history and clinical findings, we diagnosed it as a case of trichorhinophalangeal syndrome (TRPS) type I.
Figure 1: (a) Sparse scalp hair and eyebrows with characteristic facies. (b) Similar clinical presentation on her mother

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Figure 2: Angulation of the digits with brachydactyly and koilonychias

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Figure 3: X-ray showing angulation of the phalanges

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Figure 4: Pedigree chart of their family

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TRPS is an autosomal dominant, rarely autosomal recessive condition with variable expression.[1] It has three types. TRPS type I was first described by Giedion in 1966. It is characterized by a triad of trichological, craniofacial, and skeletal abnormalities.[2] Trichological abnormalities include fine, sparse scalp hair with receding frontotemporal hairline and rarely variable degree of alopecia.[3] Sparseness of hairs is also found over eyebrow (mainly lateral aspect), eyelash, axilla, and pubic region.[2] Craniofacial abnormalities include bulbous pear-shaped nose, elongated philtrum, thin upper lip, and maxillary prognathism with mandibular hypoplasia. Developmental defects of skeletal system include changes of the phalanges in the form of cone-shaped epiphyses, deviation, and brachydactyly; painless swelling of the proximal interphalangeal joint, hip changes, dental anomalies, spinal scoliosis, lordosis, and kyphosis.[2],[3]

TRPS type II and III are characterized by features of TRPS type I in both with microcephaly, mental retardation, delayed speech, multiple exostoses, and bone changes in the former and severe generalized short stature with shortness of phalanges, metacarpals, and metatarsals in the latter.[1]

TRPS type I gene was first identified in 2000 and mapped on chromosome 8q23.39, and it is associated with more than fifty mutations including deletion, nonsense, and missense mutations.[2] TRPS type I regulates cellular proliferation, epithelial-to-mesenchymal transition, differentiation, and apoptosis. Different studies showed a significant association of TRPS type I with the development of breast, ovary, endometrial, gastric, colon, and prostate carcinoma.[4],[5] A study done by Okumura et al. suggests that downregulation of TRPS type I expression is associated with distant metastasis and is an unfavorable prognostic factor in patients with gastric cancer.[4] On the other hand, in a large series done on 54 breast tumors and >200 normal tissue sample, Radvany et al. found that TRPS type I was highly expressed in >90% of early- and late-stage breast cancer including ductal carcinoma in situ and invasive ductal, lobular, and papillary carcinomas. Therefore, they suggest that TRPS type I may have potential as a diagnostic marker for breast cancer and as TRPS type I protein is immunogenic, thus if its tolerance can be broken through immunologic intervention such as vaccination, then it can be used as a cancer vaccine target in the near further.[5]

As TRPS type I gene shows variable expressivity of clinical features, many cases of TRPS type I remain underdiagnosed. Most of the time patients seek dermatological opinion for fine, sparse hair or alopecia or go to pediatrician for delayed developmental milestone or growth retardation. Apart from this, they may need orthopedics, dental, ENT, or surgery opinion for other associated problems of TRPS. The characteristic facies is a pointer to the diagnosis of TRPS, which should direct the treating physician to examine for other changes.

We report here this case because of its rarity and interesting clinical presentation with familial occurrence. In spite of best of our effort, we could find out only five reported cases of TRPS type 1 in the Indian population in PubMed database and most of the previous cases are reported in middle-aged adults. It is very important to educate patient and their relatives about the presence of this syndrome, its chances of developing malignancy, subsequent genetic counseling, and the importance of regular follow-up.

Declaration of Patient Consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Acknowledgment

The authors appreciate with profound respect, the critical review of Prof. Arghyaprasun Ghosh and Dr. Sangita De in the preparation of this manuscript.

Financial Support and Sponsorship

Nil.

Conflicts of Interest

There are no conflicts of interest.

 
  References Top

1.
Vora NS, Shah S, Dave JN, Mukhopadhyay A, Roy K, Ghose A, et al. Trichorhinophalangeal syndrome type 1. Indian J Dermatol Venereol Leprol 1995;61:111-2.  Back to cited text no. 1
[PUBMED]  [Full text]  
2.
Jeon J, Kim JH, Oh CH. Trichorhinophalangeal syndrome type I – Clinical, microscopic, and molecular features. Indian J Dermatol Venereol Leprol 2014;80:54-7.  Back to cited text no. 2
  [Full text]  
3.
Paller AS, Mancini AJ. Hurwitz Clinical Pediatric Dermatology. 5th ed. Canada: Saunders Elsevier; 2016.  Back to cited text no. 3
    
4.
Okumura T, Kojima H, Hashimoto I, Watanabe T, Shibuya K, Hojo S, et al. Loss of trio-rhino-phalangeal syndrome-1 (TRPS 1) expression as a baiomarker of poor prognosis in patients with gastric cancer. Int J Cancer Res Mol Mech 2. DOI Available from: http://www.dx.doi.org/10.16966/2381-3318.124. [Last accessed on 2016 Jun 04].  Back to cited text no. 4
    
5.
Radvanyi L, Singh-Sandhu D, Gallichan S, Lovitt C, Pedyczak A, Mallo G, et al. The gene associated with trichorhinophalangeal syndrome in humans is overexpressed in breast cancer. Proc Natl Acad Sci U S A 2005;102:11005-10.  Back to cited text no. 5
    


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



 

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