|Year : 2021 | Volume
| Issue : 4 | Page : 336-338
Orofacial-digital syndrome type 1 with patchy scalp alopecia in an Indian child
Department of Dermatology, IIMS&R, Lucknow, Uttar Pradesh, India
|Date of Submission||11-Jun-2020|
|Date of Decision||29-Jun-2020|
|Date of Acceptance||30-Mar-2021|
|Date of Web Publication||01-Oct-2021|
IIMS&R, Lucknow, Uttar Pradesh
Source of Support: None, Conflict of Interest: None
Introduction: Oral-facial-digital syndrome (OFDS) is a rare type of ectodermal dysplasias characterized by malformations of the face, oral cavity, and digits. The OFDS type 1 is most common and has an X-linked dominant inheritance. Case report: We report a child with a single patch of scalp alopecia who was found to have typical oral malformations such as high arched palate, accessory frenulae, tongue hamartoma, and dentition abnormalities. . She had associated central nervous system malformations and was diagnosed with OFDS 1. Discussion: The case highlights importance of recognizing this syndrome to detect systemic abnormalities on time.
Keywords: Ectodermal dysplasia, magnetic resonance imaging, ciliopathies, hair, dermoscopy
|How to cite this article:|
Chand S. Orofacial-digital syndrome type 1 with patchy scalp alopecia in an Indian child. Indian J Paediatr Dermatol 2021;22:336-8
|How to cite this URL:|
Chand S. Orofacial-digital syndrome type 1 with patchy scalp alopecia in an Indian child. Indian J Paediatr Dermatol [serial online] 2021 [cited 2021 Dec 6];22:336-8. Available from: https://www.ijpd.in/text.asp?2021/22/4/336/327440
| Introduction|| |
Oro facial digital syndrome (OFDS) is a rare disorder with typical features and some cases may have underlying systemic involvement. We present a case of OFDS in an Indian child who presented with focal scalp alopecia.
| Case Report|| |
A nine-year-old girl born of nonconsanguineous marriage with dental abnormalities was referred from the dental department for associated scalp alopecia present since birth [Figure 1].
|Figure 1: (a) Trichoscopy of focal alopecia in oral-facial-digital syndrome 1 ; (b) Trichoscopy image (Dermlite 3®, 10x )|
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Cutaneous examination revealed an oval 6 cm × 4 cm alopecic patch at the left frontoparietal region with multiple fine, hypopigmented vellus hairs and few single terminal hairs. Multiple comedones over the bilateral pinnae and cheeks were seen. Oral cavity showed high arched palate with a submucosal median cleft, multiple fusion defects of the maxilla and mandible with multiple short accessory labial frenulae attached to these sites, dental caries, and a firm, round, whitish tongue nodule at the right lateral margin of the tongue [Figure 2]. There was shortening of the right lower limb by 2.5 cm. A firm, smooth, hemispherical growth was noted over the medial aspect of right great toe, and a bony hard nodule was also found over the lateral aspect of the upper leg. Digits of the hands and feet were noticed to be short and deviated [Figure 3]. Trichoscopy (Dermlite 3®, ×10) of scalp alopecia showed multiple white dots, reticular brown pigmentation, vellus hairs scattered throughout the patch of alopecia, and single hair shafts per follicle mainly at the periphery. Hair casts were present. No black dots, exclamation mark hair, broken hair, vascular patterns, scarring, or atrophic areas were seen [Figure 1]b. Chest X-ray revealed T6 vertebral defect and scoliosis. An orthopantomogram showed unerupted canines and premature eruption of the lower [Figure 2]b. X-ray of the lower limbs revealed right tibial shortening, soft tissue swelling on the medial aspect of the right great toe, lateral deviation of great toe, and medial deviation of lateral three toes. The bony hard swelling at the right upper leg was the superiorly displaced fibular head. X-ray of the hands revealed ulnar deviation of the bilateral index and middle fingers and radial deviation of the little fingers. Magnetic resonance imaging (MRI) of the brain showed bilateral choroid plexus cysts, subependymal cysts, and cerebellar and vermian dysgenesis [Figure 4]. MRI of the abdomen was normal. Vitals, systemic examination and investigations such as hemogram, liver function test, real function test, electrolytes, and urinalysis were normal. The finding of deranged coagulation profile was an incidental finding with no symptoms. However, there were no complaints or clinical evidence of abnormal bleeding.
|Figure 2: (a) Accessory mandibular frenulae and tongue nodule; (b) abnormal orthopantomogram|
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|Figure 4a and b: Magnetic resonance imaging brain showing cyst and vermian dysgenesis|
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There was no history of delayed milestones, seizures, visual disturbances, spontaneous eye movements, difficulty in walking, regurgitation of meals, hearing difficulties, or speech problems. She was performing well at school and siblings were unaffected. There was no history of spontaneous abortions in the mother. She was in the 10th centile for her height (125 cm) and in the 25th centile for her weight (25 kg). Her forehead showed frontal bossing.
The patient was advised to undergo an echocardiography, excision biopsy of toe swelling, excision biopsy of tongue swelling, and a molecular testing for determining gene mutation. However, the parents refused these interventions. She has been advised neurology consultations, yearly renal function tests, and dental follow-up. According to the parents, the patch of alopecia was spontaneously improving, so they refused any treatment. However, at two months follow-up, no new hair growth was observed.
| Discussion|| |
The OFDS is a rare ectodermal dysplasia characterized by typical malformations of the oral cavity, face, and digits. These are ciliopathies with at least 14 types described and causative genes being identified for two common subtypes (I and VI) and four rare subtypes (III, IV, IX, and XIV). The subtypes may be distinguished from each other through clinical examination, patterns of inheritance, radiographs, and molecular techniques.
The most common type is OFDS 1 or Psaume Papillon-Léage syndrome (incidence 1:50,000) having X-linked dominant inheritance and occurring mostly in females while being lethal to males in utero. However, males having XXY genome have been reported with this disorder.
The majority of mutations are sporadic (~75%) and the defective gene is on the short arm of X-chromosome (Xp22.2–22.3) called CXORF5 or the OFDS type I (OFDI) gene. This encodes for the centrosomal/basal body OFD1 protein which is important for development of the brain, face, limbs, kidney, and other organs.
Oral malformations in OFDS 1 include micrognathia, narrow upper lip, cleft lip, palate and tongue, lobulated tongue with hamartomas, ankyloglossia, high arched palate, alveolar ridge notching, and hyperplastic frenulae (lingual, buccal, and labial). Tongue hamartomas have been described in 70% of cases of OFDS 1. It is recommended to evaluate any patient with tongue masses and cleft palate associated with feeding problems for OFDS 1. Dental abnormalities such as hyperdontia, hypodontia, impacted teeth, retained deciduous teeth, enamel dysplasia, anterior open bite, and posterior cross-bite are seen.
Facial abnormalities in OFDS 1 include facial asymmetry, frontal bossing, hypertelorism, broad nasal bridge, alar hypoplasia, low-set ears, uneven nostrils, flat mid-face, maxillary and mandibular hypoplasia, vanishing milia on the face and ears, dry, brittle hair, and patterned alopecia of the scalp. Comedones have been reported recently in cases of OFDS.,
Alopecia seen in such cases may be nonscarring, diffuse, or patchy. The prognosis of alopecia is unknown, and it may persist into adulthood.
Skeletal malformations include brachydactyly and syndactyly, clinodactyly, polydactyly, and limb length variation. Abnormalities such as hydrocephalus, cerebellar anomalies, porencephaly, and agenesis of corpus callosum have been documented.,,
Polycystic kidney disease in OFDS 1 is considered to be its distinguishing feature from other subtypes and may not be apparent initially, requiring dialysis or transplant later. Hence, renal investigations of all females with OFDS 1 must be done to determine renal involvement.
Managing a patient with OFDS involves multidisciplinary approach. Prenatal ultrasound may detect facial, brain, and digital or limb malformations. The OFDS 1 is characteristically associated with patchy scalp alopecia and polycystic kidney disease. Hence, its early diagnosis is important to prevent long-term sequelae.
Declaration of consent
The authors certify that they have obtained all appropriate consent forms, duly signed by the parent(s) of the patient. In the form the parent(s) has/have given his/her/their consent for the images and other clinical information of their child to be reported in the journal. The parents understand that the names and initials of their child will not be published and due efforts will be made to conceal their 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]