Journal of Indian Society of Pedodontics and Preventive Dentistry
Journal of Indian Society of Pedodontics and Preventive Dentistry
                                                   Official journal of the Indian Society of Pedodontics and Preventive Dentistry                           
Year : 2016  |  Volume : 34  |  Issue : 2  |  Page : 189--191

Ambras syndrome: A rare case report


A Ishita, GP Sujatha, GV Pramod, L Ashok 
 Department of Oral Medicine and Radiology, Bapuji Dental College and Hospital, Davangere, Karnataka, India

Correspondence Address:
Dr. A Ishita
Room No. 1, Department of Oral Medicine and Radiology, Bapuji Dental College and Hospital, Davangere - 577 004, Karnataka
India

Abstract

Congenital generalized hypertrichosis associated with gingival hyperplasia are rare cases published in literature. The frequency incidence of generalized congenital hypertrichosis is about one to billions of people. Hypertrichosis and gingival hyperplasia are termed as Ambras syndrome (AS), which can be noticed at birth or soon after. Here, is a rare case report of 4-year-old male child who presented with generalized hypertrichosis with gingival fibromatosis and dysmorphic facial features.



How to cite this article:
Ishita A, Sujatha G P, Pramod G V, Ashok L. Ambras syndrome: A rare case report.J Indian Soc Pedod Prev Dent 2016;34:189-191


How to cite this URL:
Ishita A, Sujatha G P, Pramod G V, Ashok L. Ambras syndrome: A rare case report. J Indian Soc Pedod Prev Dent [serial online] 2016 [cited 2020 Nov 29 ];34:189-191
Available from: https://www.jisppd.com/text.asp?2016/34/2/189/180452


Full Text

 Introduction



Dentist may be confronted with cases of delayed eruption of teeth due to gingival hyperplasia. Ambras syndrome (AS) is a rare form of congenital hypertrichosis associated with gingival hyperplasia and dysmorphic facial features in which the body is covered with long, fine, vellus-type hair. This very rare X-linked dominant condition has been responsible for the descriptions 'dog faced' and 'werewolf'. [1]

 Case Report



A 4-year-old male child reported with his father to the Department of Oral Medicine and Radiology, with the complaint of absence of teeth in upper front region of mouth. As per the history, patient was the second child of his parents with consanguineous marriage.

History revealed that before the birth of the child, antenatal ultrasound scan reported that the child had bilateral fetal hydronephrosis with distended urinary bladder with the posterior urethral valve. However, child was born after normal delivery, but had syndromic facies and suffered with lower respiratory tract infection and urinary tract infection, and treated successfully. Intraorally thick and swollen gum pads were noticed at birth.

Patient had normal milestones of growth, normal activities with only abnormality being increased hair growth all over the body. After consultation with the pediatrician and the examination of the patient, the following features are compiled.

Patient was averagely built and nourished and skeletal age corresponding 3-4 years with normal intelligence and other motor activity. Skin was normal with excessive hair growth on shoulders, hands, legs, and back region [Figure 1] and [Figure 2]. Hair was longer and dark brown to black and soft and fine, increased facial height, relatively large head with short neck, increased intercanthal distance, and bushy, concrescent eye brows with long eye lashes. Depressed nasal bridge and round tip of nose, flared ala of nose with increased interalar distance. Upper and lower lips were thick, mentolabial sulcus was absent.{Figure 1}{Figure 2}

Intraoral examination revealed generalized gingival enlargement which was pale pink in color, firm in consistency, and slight macroglossia was appreciated. Clinically,51,52,61,62, and 63 were absent; 53,54,55,64,65,71,72,73,74,75,81,82,83,84, and 85 were covered with fibrotic gingiva; and 71,72,73,81,82, and 83 were partially erupted. Erupted teeth resembled features of the normal counterparts in par with the age and normal in appearance [Figure 3] and [Figure 4], and permanent tooth buds with normal follicular spaces, were seen in radiograph [Figure 5].{Figure 3}{Figure 4}{Figure 5}

All these features were suggestive of a rare entity, AS, which consists of congenital hypertrichosis associated with gingival hyperplasia and dysmorphic facial features.

 Discussion



AS was first described by Baumeister et al., in 1993 and believed to be that of Petrus Gonzales, as reported by Rashid M Rashid, [2] followed by Balducci et al., who described the etiology as specific genetic alteration, that is, pericentric inversion (8) (p11.2; q22,) and can also be due to fetal alcohol syndrome and fetal hydentoin syndrome. [3],[4]

AS is characterized by increase in vellous type of hair growth on full body except for parts where normally no hair grows, like palm, soles of feet, mucosa, and dorsal terminal phalanges; the length of hair can reach several centimeters, which is silky and light in color; hair growth is specially seen on face, shoulders, and ear and uniformly covers eyelids, nose, cheeks, and periauricular region. [2]

Hypertrichosis can be classified in two ways, one as acquired versus congenital and other is generalized versus localized. [5],[6]

A variety of dimorphisms like triangular coarse face, broad intercantha, broad palpebral fissures, long nose with round tip, wide interalar distance, anteverted nares, short integumental lower lip, and flat mentolabialissulcus, occasionally hexadactyly and supernumerary nipples are present. [7] Other features include absence and delayed eruption of both the dentition, possibly due to gingival fibromatosis. The gingiva is usually of normal color, firm, and finely stippled in childhood, while later may acquire papillary projections. The grossly enlarged labial gingiva may prevent the closure of the lips and bilateral enlargement of the palatal mucosa may meet in the midline. [8]

A variety of dental findings have been described in relation to congenital hypertrichosis lanuginose, including delayed eruption of permanent teeth, hypodontia, neonatal teeth, microdontia, and the presence of supernumerary teeth. [9] But associated classical dysmorphic features characterizes AS.

The patient requires no treatment, but dental care, counseling, and regular shaving of hairs for which different methods like mechanical shaving chemical depilatories, enzymatic depilatories, and permanent hair removal are available. [10]

 Conclusion



Gingival hyperplasia, a common condition, have enormous underlying etiologies, one of which can be congenital cause, that is, AS, which should be diagnosed by above features mentioned and can be confirmed by genetic studies.

 Acknowledgment



We would like acknowledge parents of the patient for their cooperation in taking photographs of their child.

References

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