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CONCISE COMMUNICATION
Year : 2017  |  Volume : 8  |  Issue : 3  |  Page : 215-216  

Rapp hodgkin syndrome


1 Department of Dermatology, Command Hospital (EC), Kolkata, West Bengal, India
2 Department of Pediatrics, Command Hospital (EC), Kolkata, West Bengal, India

Date of Web Publication11-May-2017

Correspondence Address:
Shekhar Neema
Department of Dermatology, Command Hospital (EC), Kolkata, West Bengal
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/idoj.IDOJ_100_16

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How to cite this article:
Chatterjee M, Neema S, Mukherjee S. Rapp hodgkin syndrome. Indian Dermatol Online J 2017;8:215-6

How to cite this URL:
Chatterjee M, Neema S, Mukherjee S. Rapp hodgkin syndrome. Indian Dermatol Online J [serial online] 2017 [cited 2019 Nov 16];8:215-6. Available from: http://www.idoj.in/text.asp?2017/8/3/215/206110

Ectodermal dysplasias are a heterogeneous group of disorders resulting from abnormalities of structures derived from embryonic ectoderm (skin, teeth, and appendage). Rapp Hodgkin Syndrome (RHS) is a type of anhidrotic ectodermal dysplasia, which was described by Rapp and Hodgkin in 1968.[1] This syndrome is characterized by anhidrotic ectodermal dysplasia, cleft lip, and cleft palate. Other features, which have been described by various authors include coarse and wiry hairs, small mouth, narrow nose, oligodontia or anodontia, conical teeth, anonychia, hyponychia, narrow or dystrophic nails, lacrimal duct abnormalities, ear and ear canal abnormalities, and genitourinary abnormalities.[2],[3] It has autosomal dominant inheritance. Here, we report a rare sporadic case of RHS with characteristic manifestations.

A 4-year-old male child, born to unrelated parents, presented with complaints of dark discoloration of skin, inability to sweat, and heat intolerance. Parents also complained that the child had teeth loss, facial deformity, and greying of hairs. There was no history of similar complaints in the family. Dermatological examination revealed dry, hyperpigmented skin with generalized distribution of follicular papules, sparse eyebrows and eyelashes, epiphora, microtia, and orofacial clefting [Figure 1]a and [Figure 1]b. He also had coarse, dry and gray hairs, scalp dermatitis, hypodontia, mid facial hypoplasia, hyponychia, and hypospadias [Figure 1]c and [Figure 1]d. Histopathological examination of skin revealed hyperkeratosis, acanthosis, follicular plugging, increased pigmentation of basal layer, pigmentary incontinence, perivascular inflammatory infiltrate, and decreased pilosebaceous follicles [Figure 2]a and [Figure 2]b. Trichoscopy revealed varying diameters of hair shafts, hair shaft at variable angles, and most follicles containing single hair and gray hairs. Trichoscopic features were consistent with pili torti [Figure 2]c and [Figure 2]d. In view of anhidrotic ectodermal dysplasia associated with orofacial clefting, hypodontia, microtia, genitourinary abnormalities, lacrimal duct anomaly, and hair involvement, the diagnosis of RHS was made.
Figure 1: Repaired cleft lip and palate, epiphora; (b) hypodontia; (c) Scalp dermatitis; (d) Hypospadias

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Figure 2: (a) Histopathology of skin – Hyperkeratosis, acanthosis, follicular plugging (H and E. 4×); (b) Histopathology of skin – Increased pigmentation of basal layer, superficial perivascular infiltrate, and decreased pilosebaceous follicles (H and E, 10×); (c, d) Dry trichoscopy using polarised light (Heine Delta 20) – varying diameters of hair shafts, hair shaft at variable angles, most follicles, containing single hair and gray hairs – consistent with pili torti

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RHS is a rare ectodermal dysplasia with characteristic cutaneous features, however, it has been disputed whether it is a distinct clinical entity or part of EEC syndrome (ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome).[4] EEC syndrome results from a mutation in TP63 gene [5] and recently it has been found that similar mutation can also be seen in cases of RHS, thereby suggesting that RHS is a part of EEC syndrome.[6]

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.

Financial support and sponsorship

None.

Conflicts of interest

There are no conflicts of interest.

 
   References Top

1.
Available from: http://www.omim.org/entry/129400. [Last accessed on 2015 Jun 15].  Back to cited text no. 1
    
2.
Silengo MC, Davi GF, Bianco R, Costa M, DeMarco A, Verona R, et al. Distinctive hair changes (pili torti) in Rapp–Hodgkin ectodermal dysplasia syndrome. Clin Genet 1982;21:297-300.  Back to cited text no. 2
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3.
Salinas CF, Montes-G GM. Rapp–Hodgkin syndrome: Observations on ten cases and characteristic hair changes (pili canaliculi). Birth Defects Orig Art Ser 1988;24:149-68.  Back to cited text no. 3
    
4.
Cambiaghi S, Tadini G, Barbareschi M, Menni S, Caputo R. Rapp–Hodgkin syndrome and AEC syndrome: Are they the same entity? Br J Dermatol 1994;130:97-101.  Back to cited text no. 4
    
5.
Celli J1, Duijf P, Hamel BC, Bamshad M, Kramer B, Smits AP, et al. Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome. Cell 1999;99:143-53.  Back to cited text no. 5
    
6.
Bougeard G, Hadj-Rabia S, Faivre L, Sarafan-Vasseur N, Frébourg T. The Rapp-Hodgkin syndrome results from mutations of the TP63 gene. Eur J Hum Genet 2003;11:700-4.  Back to cited text no. 6
    


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