Generic selectors
Exact matches only
Search in title
Search in content
Search in posts
Search in pages
Filter by Categories
15th National Conference of the IAOMFP, Chennai, 2006
Abstract
Abstracts from current literature
Acne in India: Guidelines for management - IAA Consensus Document
Addendum
Announcement
Art & Psychiatry
Article
Articles
Association Activities
Association Notes
Award Article
Book Review
Brief Report
Case Analysis
Case Letter
Case Letters
Case Notes
Case Report
Case Reports
Clinical and Laboratory Investigations
Clinical Article
Clinical Studies
Clinical Study
Commentary
Conference Oration
Conference Summary
Continuing Medical Education
Correspondence
Corrigendum
Cosmetic Dermatology
Cosmetology
Current Best Evidence
Current View
Derma Quest
Dermato Surgery
Dermatopathology
Dermatosurgery Specials
Dispensing Pearl
Do you know?
Drug Dialogues
e-IJDVL
Editor Speaks
Editorial
Editorial Remarks
Editorial Report
Editorial Report - 2007
Editorial report for 2004-2005
Errata
Erratum
Focus
Fourth All India Conference Programme
From Our Book Shelf
From the Desk of Chief Editor
General
Get Set for Net
Get set for the net
Guest Article
Guest Editorial
History
How I Manage?
IADVL Announcement
IADVL Announcements
IJDVL Awards
IJDVL AWARDS 2015
IJDVL Awards 2018
IJDVL Awards 2019
IJDVL Awards 2020
IJDVL International Awards 2018
Images in Clinical Practice
In Memorium
Inaugural Address
Index
Knowledge From World Contemporaries
Leprosy Section
Letter in Response to Previous Publication
Letter to Editor
Letter to the Editor
Letter to the Editor - Case Letter
Letter to the Editor - Letter in Response to Published Article
LETTER TO THE EDITOR - LETTERS IN RESPONSE TO PUBLISHED ARTICLES
Letter to the Editor - Observation Letter
Letter to the Editor - Study Letter
Letter to the Editor - Therapy Letter
Letter to the Editor: Articles in Response to Previously Published Articles
Letters to the Editor
Letters to the Editor - Letter in Response to Previously Published Articles
Letters to the Editor: Case Letters
Letters to the Editor: Letters in Response to Previously Published Articles
Medicolegal Window
Messages
Miscellaneous Letter
Musings
Net Case
Net case report
Net Image
Net Letter
Net Quiz
Net Study
New Preparations
News
News & Views
Obervation Letter
Obituary
Observation Letter
Observation Letters
Oration
Original Article
ORIGINAL CONTRIBUTION
Original Contributions
Pattern of Skin Diseases
Pearls
Pediatric Dermatology
Pediatric Rounds
Perspective
Presedential Address
Presidential Address
Presidents Remarks
Quiz
Recommendations
Regret
Report
Report of chief editor
Report of Hon : Treasurer IADVL
Report of Hon. General Secretary IADVL
Research Methdology
Research Methodology
Resident page
Resident's Page
Resident’s Page
Residents' Corner
Residents' Corner
Residents' Page
Retraction
Review
Review Article
Review Articles
Revision Corner
Self Assessment Programme
SEMINAR
Seminar: Chronic Arsenicosis in India
Seminar: HIV Infection
Short Communication
Short Communications
Short Report
Special Article
Specialty Interface
Studies
Study Letter
Supplement-Photoprotection
Supplement-Psoriasis
Symposium - Contact Dermatitis
Symposium - Lasers
Symposium - Pediatric Dermatoses
Symposium - Psoriasis
Symposium - Vesicobullous Disorders
SYMPOSIUM - VITILIGO
Symposium Aesthetic Surgery
Symposium Dermatopathology
Symposium-Hair Disorders
Symposium-Nails Part I
Symposium-Nails-Part II
Tables
Technology
Therapeutic Guidelines
Therapeutic Guidelines - IADVL
Therapeutics
Therapy
Therapy Letter
View Point
Viewpoint
What’s new in Dermatology
View/Download PDF
Letter to Editor
2013:79:5;714-717
PMID: 23974594

Rubinstein-Taybi syndrome: A report of two siblings with unreported cutaneous stigmata

Shuchi Bansal, Vineet Relhan, Vijay K Garg
 Department of Dermatology, Maulana Azad Medical College and Lok Nayak Hospital, New Delhi, India

Correspondence Address:
Vineet Relhan
35-F, Sector-7, SFS Flats, Jasola Vihar - 110 025, New Delhi
India
How to cite this article:
Bansal S, Relhan V, Garg VK. Rubinstein-Taybi syndrome: A report of two siblings with unreported cutaneous stigmata. Indian J Dermatol Venereol Leprol 2013;79:714-717
Copyright: (C)2013 Indian Journal of Dermatology, Venereology, and Leprology

Sir,

Rubinstein-Taybi syndrome is a rare congenital neurodevelopment disorder characterized by facial dysmorphism, growth retardation, mental deficiency and a variety of systemic abnormalities. [1] Less than 30 cases have been reported so far in the published Indian literature. Diagnosis is often delayed due to non-familiarity with the classical diagnostic features of the syndrome. Dermatological stigmata like hirsutism, hemangiomas, keloids and pilomatricomas have been described but there is not enough evidence to support their consistent association with the syndrome. [2] We report multiple exuberant keloids, dermatoglyphic abnormalities and vitiligo along with other classical features in two siblings with Rubinstein-Taybi syndrome. Cutaneous stigmata seen in the previous reports have also been reviewed.

A 18-year-old male born out of consanguinous marriage presented to the outpatient department of our tertiary care hospital with multiple raised scars over the body for 8 years. The lesions appeared spontaneously without any history of preceding trauma, pustular lesions, injections, or burns. There was history of occasional itching in the lesions. Patient gave history of similar lesions, though of a lesser severity in the elder brother.

On examination, there were multiple keloidal scars present over the chest, abdomen, shoulders, back and thighs [Figure - 1]. The patient had distinct facial features with an antimongoloid slant of palpebral fissures, thick eyebrows, long eyelashes, a prominent beaked nose and less developed alae nasi [Figure - 2]a. The columella extended well below the nares. The ears were small, and posteriorly rotated. Microstomia with hypoplastic maxilla were present. Intraoral examination revealed a high arched palate. The teeth in the upper jaw were malpositioned and most of them showed caries, though talon cusps, a distinct finding in this syndrome was not observed in our patient [Figure - 2]b.

Figure 1: Patient showing multiple keloidal scars over chest, abdomen and back
Figure 2: (a) Dysmorphic facial features with antimongoloid slant of palpebral fi ssures, thick eyebrows, prominent beaked nose and hypoplastic maxilla (b) Intraoral examination showing malpositioned teeth in the upper jaw (c) Examination of the feet revealing short and broad halluces

The gait, muscle tone and overall anthropometric measurements of the patient were within normal limits. He had broad thumbs and broad short halluces [Figure - 2]c. The middle finger of the left hand was slightly deviated towards the ulnar side [Figure - 3]a. The patient also showed supernumerary digital flexion creases on the middle finger of right hand, and index and ring fingers of left hand [Figure - 3]b.

Figure 3: (a) Middle finger of left hand showing deviation towards ulnar side (arrow) (b) Supernumerary digital flexion creases appreciated on the index and ring fingers of left hand and middle and ring fingers of right hand (arrows)

There was mild mental retardation. The electrocardiography and echocardiography did not show any abnormality. Rest of the neurological, ophthalmological, genitourinary, audiological and skeletal examinations were normal.

The patients′ elder brother also showed multiple keloidal scars over the chest and back, though the extent and severity was lesser. He also had broad thumbs and broad toes and showed dysmorphic facial features, including antimongoloid slant of palpebral fissures, ptosis of the left upper eyelids, a prominent beaked nose and low set ears [Figure - 4]. The patient also had a high refractive error in both eyes for which he had to wear high power spectacles. He had mild mental retardation and speech difficulty, including articulatory problem and stuttering. Interestingly, he also had vitiligo involving the areolar area of both nipples [Figure - 4].

Figure 4: Elder brother of the patient showing dysmorphic facial features (antimongoloid slant of palpebral fi ssures, ptosis of left upper eyelid, prominent beaked nose and low set ears) with multiple keloidal scars over the chest and vitiligo involving areolar area of both nipple

The parents and the other three siblings of the affected patients did not have keloids or any other features of the syndrome.

Rubinstein-Taybi syndrome or Broad Thumb-Hallux syndrome was first described by Michail et al. in 1957 and then reported by Rubinstein and Taybi in a series of seven cases in 1963. Since then, a number of reports have come up and many new features have been added to the syndrome. Mutations and chromosomal rearrangements in the gene encoding the CREB (cAMP response element binding protein), also known as (CREBBP/CBP) located on 16p13.3 have been found in few patients diagnosed with the syndrome. [3] The gene functions as a transcriptional co-activator and in the regulation of cell growth, cellular differentiation, tumor suppression, and long-term memory. The disease commonly occurs sporadically; very few cases have been reported to occur in more than one member of the family. [4] The presence of disease in siblings born to apparently unaffected parents and the finding of consanguinity strongly suggests autosomal recessive transmission in our patients.

Apart from the classical facial and skeletal anomalies, various other features have been described like stiff gait, hypotonia, hyperextensible joints, congenital heart defects, cryptorchidism, feeding problems, constipation and increased risk of tumors.

Cutaneous features have also been described, but due to paucity of literature, further evidence is required to confirm if the findings are a consistent part of the syndrome or not. The most frequent associations have been hirsutism and capillary malformations. Keloids were first described by Kurwa [5] and then subsequently reported in few other patients. Pilomatricomas have also been described in a few reports but whether the association is due to a contiguous gene syndrome or a mere coincidence is difficult to assess. [6]

Another interesting finding seen is the dermatoglyphic abnormalities like increase in frequency of arches, additional apical triradius on the thumb or great toe, single transverse palmar crease and deep plantar crease in first interdigital area. The presence of supernumerary digital flexion creases as in our patient has not been described in previous cases of Rubinstein-Taybi syndrome, though the finding has been reported in few cases of Alagille syndrome. [7]

The presence of vitiligo as in our patient has also not been reported in association with the syndrome before. Since genetic factors play an important role in the development of vitiligo lesions, a possible common genetic etiology cannot be excluded for the occurrence of vitiligo in our patient.

Diagnosis primarily rests upon the classical clinical features of the syndrome. Treatment requires a multidisciplinary approach. In the first year of life, specific attention should be paid to feeding problems, constipation, lacrimal duct stenosis and congenital heart defects. Undescended testes in males can be surgically corrected. Treatment of extensive keloids is often disappointing. Early recognition of malignancy increases the chances of successful intervention.

This report demonstrates two cases of Rubinstein-Taybi syndrome with their unique dermatological features. Though keloids have been reported before, further evidence is required to confirm if vitiligo and dermatoglyphic findings seen in our patients are regularly associated with the syndrome. The report also favors an autosomal recessive mode of inheritance, which has rarely been reported for the syndrome, and encourages further genetic studies to substantiate this finding.

References
1.
Stevens CA, Carey JC, Blackburn BL. Rubinstein-Taybi syndrome: A natural history study. Am J Med Genet Suppl 1990;6:30-7.
[Google Scholar]
2.
Hsiung SH. Rubinstein-Taybi syndrome (broad thumb-hallux syndrome). Dermatol Online J 2004;10:2.
[Google Scholar]
3.
Bartsch O, Schmidt S, Richter M, Morlot S, Seemanová E, Wiebe G, et al. DNA sequencing of CREBBP demonstrates mutations in 56% of patients with Rubinstein-Taybi syndrome (RSTS) and in another patient with incomplete RSTS. Hum Genet 2005;117:485-93.
[Google Scholar]
4.
Hennekam RC, Lommen EJ, Strengers JL, Van Spijker HG, Jansen-Kokx TM. Rubinstein-Taybi syndrome in a mother and son. Eur J Pediatr 1989;148:439-41.
[Google Scholar]
5.
Kurwa AR. Rubinstein-Taybi syndrome and spontaneous keloids. Clin Exp Dermatol 1979;4:251-4.
[Google Scholar]
6.
Cambiaghi S, Ermacora E, Brusasco A, Canzi L, Caputo R. Multiple pilomatricomas in Rubinstein-Taybi syndrome: A case report. Pediatr Dermatol 1994;11:21-5.
[Google Scholar]
7.
Kamath BM, Loomes KM, Oakey RJ, Krantz ID. Supernumerary digital flexion creases: An additional clinical manifestation of Alagille syndrome. Am J Med Genet 2002;112:171-5.
[Google Scholar]

Fulltext Views
245

PDF downloads
128
Show Sections