|Year : 2019 | Volume
| Issue : 2 | Page : 151-153
Rubinstein–Taybi Syndrome in a Male Child: Unusual Manifestations of a Rare Disease
Deepak Balikai, Varsha M Shetty, Raghavendra Rao, B Sathish Pai
Department of Dermatology, Kasturba Medical College, Manipal, Karnataka, India
|Date of Web Publication||29-Mar-2019|
Dr. Varsha M Shetty
Department of Dermatology, Kasturba Medical College, Manipal - 576 104, Karnataka
Source of Support: None, Conflict of Interest: None
Rubinstein–Taybi syndrome (RSTS) is a rare genetic disorder, characterized by intellectual disability, growth retardation, characteristic facial features, skeletal deformities, and other systemic involvement. Cutaneous involvement includes hirsutism, capillary hemangiomas, pilomatricomas, keloids, and hair abnormalities. Diagnosis of this condition is at times difficult due to overlapping clinical features and requirement of genetic mutation analysis which is not feasible in majority of the cases. Hence, it is imperative to know the typical dermatological features of RSTS which will help in clinical diagnosis in most of the cases.
Keywords: Developmental delay, keloids, Rubinstein-Taybi syndrome
|How to cite this article:|
Balikai D, Shetty VM, Rao R, Pai B S. Rubinstein–Taybi Syndrome in a Male Child: Unusual Manifestations of a Rare Disease. Indian J Paediatr Dermatol 2019;20:151-3
|How to cite this URL:|
Balikai D, Shetty VM, Rao R, Pai B S. Rubinstein–Taybi Syndrome in a Male Child: Unusual Manifestations of a Rare Disease. Indian J Paediatr Dermatol [serial online] 2019 [cited 2019 Sep 19];20:151-3. Available from: http://www.ijpd.in/text.asp?2019/20/2/151/255205
| Introduction|| |
Rubinstein–Taybi syndrome (RSTS) or broad thumb-hallux syndrome is a rare congenital, neurodevelopmental disorder with noticeable clinical features such as postnatal growth deficiency, typical dysmorphic facies, mental retardation, and broad thumb and toes. There are very few cases reported from developing nations with the prevalence in India ranging from 1 in 100,000 to 125,000 births., The patients of RSTS can be referred to a dermatologist in view of the cutaneous features which include keloids, hypertrichosis, and capillary hemangiomas. Hence, dermatologist can play a vital role in diagnosing this entity as early diagnosis can enable in appropriate genetic counseling and planning the management.
| Case Report|| |
A seven-year-old boy born out of nonconsanguineous marriage was referred to the dermatology outpatient department for the complaints of multiple skin lesions of five years duration. Lesions appeared after taking intramuscular injections at the age of two years with gradual progression in size and number. There was no pain or tenderness associated with lesions.
On examination, there were multiple keloidal scars present over the bilateral gluteal area on medial and lateral quadrants. Size of these keloids ranged from smallest being 2 cm × 2 cm on the right gluteal area to largest measuring about 15 cm × 5 cm over left gluteal region [Figure 1]. There was no history of keloidal tendency in the family. Hypertrichosis was observed over the back [Figure 2].
In addition, the patient had dysmorphic facial features such as down-slanting of palpebral fissures, broad nasal bridge, beaked nose, long eyelashes, high-arched eyebrows, posteriorly placed large ears, and microcephaly [Figure 3]. Oral cavity showed high-arched palate and dental caries.
|Figure 3: Dysmorphic facies showing downslanting of palpebral fissures, broad nasal bridge, high arched eyebrows, long eyelashes and posteriorly placed ears|
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Examination of the palms showed hyperkeratosis with bilateral broad thumbs, auto-amputation of fingertips of the right middle finger, right ring finger, and left index finger [Figure 4].
The child was found to have growth retardation and delayed developmental milestones. Visual and auditory functions were found to be normal. The patient had been operated for cryptorchidism at the age of three years.
Based on the above clinical features, a diagnosis of RSTS was made. Chromosomal mutation analysis was deferred due to patient's financial constraints.
| Discussion|| |
RSTS or broad thumb-hallux syndrome was initially described by Michail et al. in 1957 and subsequently by Rubinstein and Taybi in 1963. It is known to occur sporadically due to mutations and chromosomal rearrangements in the gene encoding cAMP responsive element binding protein (CREBP) located on 16p13.3. This gene is responsible for cellular proliferation, differentiation, memory, and tumor suppression.
RSTS is essentially characterized by postnatal delay in growth, slow intellectual development, facial dysmorphism, and broad thumb and toes. The typical facial features include low frontal hairline, down-slanting of palpebral fissures, low set ears, and high-arched/thick eyebrows, unusually long eyelashes, protruding beaked nose, micrognathia, high-arched palate, dental anomalies, and grimacing in the form of atypical smile. In addition to the classical facial and skeletal anomalies, various other features described in RSTS are congenital heart defects, hypotonia, cryptorchidism, feeding problems, constipation, and ophthalmological problems such as nasolacrimal duct problems, retinal dysfunction, and cataract. There is an increased tendency to develop tumors mainly meningioma and leukemia. However, life expectancy seems to be normal.,
Cutaneous features of RSTS are tendency to form keloids, pilomatricomas, ingrown toenails, paronychia, hypoplastic toenails, keratosis pilaris, atopic eczema, seborrheic dermatitis, and hirsutism., The incidence of keloids in RSTS ranged from 4.8% to 24%, with keloids being mainly concentrated on the upper trunk, shoulders, and arms.,, However, our patient presented with typical features of RSTS with large keloids on the lower half of the body and unique feature of auto-amputation of the digits which has not been reported so far to the best of our knowledge.
Diagnosis is mainly done on clinical grounds based on the recognition of constellation of clinical features. Mutations in the CREBP gene by chromosomal analysis can be detected in 55% of cases. There is no definitive treatment for RSTS, and the management is mainly supportive. However, there is a need for standard guidelines of follow-up care for these patients. Milani et al. have proposed guidelines for follow-up care of patients with RSTS [Table 1].
This case is being reported to highlight the cutaneous features of RSTS which can aid in the early diagnosis and management of this condition.
Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient has given that his consent for his images and other clinical information to be reported in the journal. The patient understands that name and initials will not be published and due efforts will be made to conceal identity, but anonymity cannot be guaranteed.
Financial support and sponsorship
Conflicts of interest
There are no conflicts of interest.
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[Figure 1], [Figure 2], [Figure 3], [Figure 4]