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CASE REPORT
Year : 2016  |  Volume : 34  |  Issue : 2  |  Page : 189-191
 

Ambras syndrome: A rare case report


Department of Oral Medicine and Radiology, Bapuji Dental College and Hospital, Davangere, Karnataka, India

Date of Web Publication14-Apr-2016

Correspondence Address:
Dr. A Ishita
Room No. 1, Department of Oral Medicine and Radiology, Bapuji Dental College and Hospital, Davangere - 577 004, Karnataka
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0970-4388.180452

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   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.


Keywords: Ambras syndrome, dysmorphic face, gingival fibromatosis, hypertrichosis


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;34:189-91

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 2018 Oct 16];34:189-91. Available from: http://www.jisppd.com/text.asp?2016/34/2/189/180452



   Introduction Top


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 Top


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: Hypertrichosis on face hands and legs and facial dimorphism

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Figure 2: Hypertrichosis on hands, back, and legs

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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: Thick and fibrotic gingiva with clinically absent incisors and left canine

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Figure 4: Thick and fibrotic gingiva covering the teeth

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Figure 5: OPG showing full complement of teeth. OPG = Orthopantomograph

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


   Discussion Top


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 Top


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 Top


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

 
   References Top

1.
Franklin DL, Roberts GJ. Delayed tooth eruption in congenital hypertrichosis lanuginosa. Pediatr Dent 1998;20:192-4.  Back to cited text no. 1
    
2.
Rashid RM, White LE. A hairy development in hypertrichosis: A brief review of Ambra syndrome. Dermatol Online J 2007;13:8.  Back to cited text no. 2
    
3.
Guevara-Sanginés E, Villalobos A, Vega-Memije ME, Mosqueda-Taylor A, Canún-Serrano S, Lacy-Niebla RM. Congenital generalized terminal hypertrichosis with gingival hyperplasia. Pediatr Dermatol 2002;19:114-8.  Back to cited text no. 3
    
4.
Balducci R, Toscano V, Tedeschi B, Mangiantini A, Toscano R, Galasso C, et al. A new case of Ambras syndrome associated with a paracentric inversion (8) (q12; q22) Clin Genet 1998;53:466-8.  Back to cited text no. 4
    
5.
Baumeister FA, Schwarz HP, Stengel-Rutkowski S. Childhood hypertrichosis: Diagnosis and management. Arch Dis Child 1995;72:457-9.  Back to cited text no. 5
    
6.
Wendelin DS, Pope DN, Mallory SB. Hypertrichosis. J Am Acad Dermatol 2003;48:161-79.  Back to cited text no. 6
    
7.
Baumeister FA, Egger J, Schildhauer MT, Stengel-Rutkowski S. Ambras syndrome: Delineation of a unique hypertrichosis universalis congenita and association with a balanced pericentric inversion (8) (p11.2; q22). Clin Genet 1993;44:121-8.  Back to cited text no. 7
    
8.
Winter GB, Simpkiss MJ. Hypertrichosis with hereditary gingival hyperplasia. Arch Dis Child 1974;49:394-9.  Back to cited text no. 8
    
9.
Bondeson J, Miles AE. The hairy family of Burma: A four generation pedigree of congenital hypertrichosis lanuginosa. J R Soc Med 1996;89:403-8.  Back to cited text no. 9
    
10.
Garcia-Cruz D, Figuera LE, Cantu JM. Inherited hypertrichoses. Clin Genet 2002;61:321-9.  Back to cited text no. 10
    


    Figures

  [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5]



 

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    Abstract
   Introduction
   Case Report
   Discussion
   Conclusion
   Acknowledgment
    References
    Article Figures

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