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CASE REPORT
Year : 2014  |  Volume : 15  |  Issue : 3  |  Page : 130-132

A case of acro-dermato-ungual-lacrimal-tooth syndrome with chronic parotitis: A new association?


1 Department of Paediatrics, Lady Ridgeway Children's Hospital, Colombo, Sri Lanka
2 Department of Dermatology, Lady Ridgeway Children's Hospital, Colombo, Sri Lanka

Date of Web Publication30-Oct-2014

Correspondence Address:
N Ginige
Department of Paediatrics, Lady Ridgeway Children's Hospital, Colombo
Sri Lanka
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/2319-7250.143672

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  Abstract 

Acro-dermato-ungual-lacrimal-tooth syndrome is characterized by ectrodactyly, syndactyly, nail dysplasia, hypoplasia of the breast and nipple, excessive freckling, lacrimal duct atresia, alopecia, primary hypodontia, and/or early loss of permanent teeth. It is a rare autosomal dominant disorder, which has been linked to mutation in the p63 gene. However unfortunately, the facilities to detect this mutation are not present in many centers. Five overlapping limb malformation syndromes have been described, including the ectrodactyly-ectodermal dysplasia-cleft syndrome .

Keywords: Acro-dermato-ungual-lacrimal-tooth syndrome, absent nipples, parotitis


How to cite this article:
Ginige N, de Silva K, Senevirathne J. A case of acro-dermato-ungual-lacrimal-tooth syndrome with chronic parotitis: A new association?. Indian J Paediatr Dermatol 2014;15:130-2

How to cite this URL:
Ginige N, de Silva K, Senevirathne J. A case of acro-dermato-ungual-lacrimal-tooth syndrome with chronic parotitis: A new association?. Indian J Paediatr Dermatol [serial online] 2014 [cited 2020 Sep 20];15:130-2. Available from: http://www.ijpd.in/text.asp?2014/15/3/130/143672


  Introduction Top


Propping and Zerres first described a family with at least seven living persons who were affected by an undescribed autosomal-dominant syndrome with variable expression, bearing close resemblance to the ectrodactyly-ectodermal dysplasia-cleft (EEC) syndrome and related disorders. [1] This was the first description of acro-dermato-ungual-lacrimal-tooth (ADULT) syndrome.

In addition to the previously reported features of ADULT syndrome this report also describes some additional findings including bilateral chronic parotitis. This report expands the knowledge of possible phenotype variations that may exist in ADULT syndrome.


  Case report Top


A 5-year-old girl born to nonconsanguinous healthy parents, as a third child in the family with two healthy siblings had very fair complexion with thin sparse lightly pigmented hair since birth. She was also noted to have absent nipples [Figure 1]. However, she had normal pectoralis muscles and a normal cardiac status confirmed by echocardiography.
Figure 1: Absent nipples

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With time parents noticed that the child has reduced sweating. Examination revealed hypotrichosis and thin dry skin. However, she did not develop any photosensitivity or freckling. In addition, she had discolored dysplastic brittle nails in hands with hyperlinear palms along with syndactily of third and fourth fingers bilaterally [Figure 2].
Figure 2: Syndactyly of 3rd and 4th fingers

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She suffered from recurrent blepharitis due to blocked naso lacrimal duct since infancy which manifested as continuous tearing and frequent eye infections. She needed naso lacrimal duct probing at the age of 2 years, but continued to have symptoms. She also suffered from recurrent parotitis with a lesser frequency and ultra sound scan (USS) of the parotid glands showed features of chronic parotitis [Figure 3].
Figure 3: Thin sparse lightly pigmented hair and parotid enlargement

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Her teeth erupted around 15 months of age but were dysplastic and small in size (hypodontia). They became carious with time leaving broken remnants of primary teeth.

She did not have a cleft palate and was of normal intelligence.

At 7 years, she was referred for endocrine assessment due to absent nipples and breast tissue which was confirmed by USS, which showed rudimentary breast tissue. But the USS pelvis showed a normal sized uterus although ovaries were not detected.

Her X-ray of hands showed normal bony architecture without fusion or hypoplasia of phalanges revealing the mere involvement of the cutaneous syndactyly. Both radial and ulnar bones were normal. Plastic surgery was planned to correct the above abnormality to optimize the functional ability of hands.

Repeat nasolacrimal duct probing to relieve the recurrent blepharitis was done. Although, a sialogram was arranged to find a cause for the chronic parotitis it failed due to the difficulty in canulating the parotid duct.

There is no family history of any features of ectodermal dysplasia or hand foot anomalies. And none had developed skin lesions suggestive of Squamous cell carcinoma.


  Discussion Top


Most likely clinical diagnosis in this child with syndactyly, mammary gland hypoplasia, lacrimal duct obstruction with prominent ectodermal dysplasia and normal lip and palate is ADULT syndrome.

This syndrome has some overlap features with EEC palate syndrome, Ulnar-mammary syndrome (UMS), ankylo blefpharon-ectodermal defects-cleft lip palate syndrome, split hand foot malformation syndrome and Rapp-Hodgkin syndrome.

High degree of clinical variability in EEC syndrome can confuse the diagnosis of an isolated patient without a family history. However in this patient, EEC can be reasonably excluded due to the absence of clefting and presence of mammary gland hypoplasia. UMS differs from ADULT syndrome by having milder ectodermal involvement. [2],[3]

We did not find the neurodermatitic signs such as photosensitivity and extensive freckling in our patient. It could be due to the young age and their cultural practice of covering the body as Muslims.

Chronic parotitis is not a well described feature in any of the above syndromes ADULT/UMS/EEC. Whether it is due to duct hypoplasia similar to lacrimal duct hypoplasia which is partially of ectodermal origin or due to bad oral hygiene with carious teeth has to be established.

All the above mentioned syndromes share a mutation at p63 region. p63 is a family member of tumor suppressor gene p53. There are several reports, which demonstrated p63 accumulation in basal cell carcinoma and squamous cell carcinoma tissues in patients with EEC syndrome by immunohistochemistry. Tumor suppressor role of p63 has been observed in animal studies. These studies have not concluded the causal relationship between p63 and Squamous cell carcinoma in ADULT syndrome. [4],[5]

Unfortunately, we were not able to perform p63 mutation analysis in our patient due to unavailability of facilities.

 
  References Top

1.Propping P, Zerres K. ADULT-syndrome: An autosomal-dominant disorder with pigment anomalies, ectrodactyly, nail dysplasia, and hypodontia. Am J Med Genet 1993;45:642-8.  Back to cited text no. 1
    
2.Amiel J, Bougeard G, Francannet C, Raclin V, Munnich A, Lyonnet S, et al. TP63 gene mutation in ADULT syndrome. Eur J Hum Genet 2001;9:642-5.  Back to cited text no. 2
    
3.Rinne T, Spadoni E, Kjaer KW, Danesino C, Larizza D, Kock M, et al. Delineation of the ADULT syndrome phenotype due to arginine 298 mutations of the p63 gene. Eur J Hum Genet 2006;14:904-10.  Back to cited text no. 3
    
4.Duijf PH, Vanmolkot KR, Propping P, Friedl W, Krieger E, McKeon F, et al. Gain-of-function mutation in ADULT syndrome reveals the presence of a second transactivation domain in p63. Hum Mol Genet 2002;11:799-804.  Back to cited text no. 4
    
5.Propping P, Friedl W, Wienker TF, Uhlhaas S, Zerres K. ADULT syndrome allelic to limb mammary syndrome (LMS)? Am J Med Genet 2000;90:179-82.  Back to cited text no. 5
    


    Figures

  [Figure 1], [Figure 2], [Figure 3]



 

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