411Pakistan Oral & Dental Journal Vol 34, No. 3 (September 2014)

Case RepoRt

Royal Medical Services, Amman - Jordan Email: kawthar_abbasi@hotmail.com Received for Publication: June 7, 2014 Revision Received: June 29, 2014 Revision Accepted: July 10, 2014

SIGNS AND SYMPTOMS

The first most frequent sign is poikiloderma in addition to sparse scalp hair and eyelashes,short status,skeletal abnormalities, juvenile cataract and premature aging.

There are two subtypes of the syndrome; RTS Type 1 and RTS Type 2 where only type 2 has high risk of osteosarcomas in childhood and skin cancer later.

DIAGNOSIS OF RTS

Diagnosis is difficult and usually not definite but according to (Wang and Plon) it can be diagnosed if poikiloderma or atypical rash were found in infancy in addition to at least two of the following signs:

– Sparse hair on scalp and eyebrows

– Short status

– Congenital bone defects

– Dental abnormalities such as unusual crown formation, microdontia,hypodontia,short roots (rhizomicry) and connective tissue disease of the gingiva.

– Dystrophic nails.

– Cataract.

ROTHMUND THOMSON SYNDROME1THAMER MOHAMMAD BSOUL2TALAL NSER AL-RAWASHDEH

3MUE'N MAHMOOD AL-WESHAH4ENAS FAWAZ OTHMAN

5AYMEN DAOUD SHAWEBKEH

ABSTRACT

Rothmund Thomson Syndrome is a rare autosomal recessive syndrome caused by homozygous or compound heterozygous mutations in (RECQL4) gene.

It was first described in 1868 by a German ophthalmologist (Rothmund1) and later in 1936 by an English dermatologist (Thomson2) who reported another three similar patients but the oponym Rothmund Thomson Syndrome (RTS) was named by Taylor3 in 1957.

– Esophagus and pyloric stenosis that causes feed-ing4-9 problems in infancy which may lead to aplastic anemia or leukopenia.

PROGNOSIS AND TREATMENT

Although some signs of early aging are usually seen but life span of the patients is not altered provid-ed that neoplastic complications do not occur and the patients should be managed by a team which includes dermatologist, ophthalmologist , orthopedic surgeon, oncologist and dentist.

CASE REPORT

A 42-year old female attended dental clinic com-plaining of grade three mobility of all her remaining teeth and roots which were hypoplastic in general and previously extracted 19 of her teeth for the same reason with moderate to good oral hygiene.

Upon examination the patient was of short status of 120 cm, her weight was 39kg. she had marked tel-angiectasia on her face and both limbs especially at the extensor surfaces with multiple cafe-au-lait spots on her neck, shoulders and upper limb. She appeared to have little scalp and eyebrows and lashes hair, her nails were obviously dystrophic hypotrophic with multiple ridging formations.

After taking detailed history the patient informed us her elder sister and her son have nearly the same symptoms, and by reviewing her medical file we found that she was diagnosed to have cataract in both eyes with barred vision and she had undergone two sur-geries to enlarge the esophagus as she was diagnosed

412Pakistan Oral & Dental Journal Vol 34, No. 3 (September 2014)

Rothmund Thomson Syndrome

Fig 1: Dystrophic nails

Fig 2: Poikiloderma

Fig 3: Juvenile cataract and sparse eye lashes

Fig 4: Sparse hair of the scalp

Fig 5: White lesion (Leukoplakia)

Fig 6: Ulcerative leukoplakia

Fig 7: Dentures made

Fig 8: Dentures provided

413Pakistan Oral & Dental Journal Vol 34, No. 3 (September 2014)

Rothmund Thomson Syndrome

to have pyloric stenosis; the first surgery was done at the age of eleven while the second one was at the age of thirty. She made regular visits to dermatologist as she complained of severe skin dryness in addition to her need to relief the pressure made by fibrous tissue around her fingers.

Previous blood tests revealed microcytic hypochro-mic anemia with 5.6 haemoglobin ratio before pyloric stenosis surgery.

DIAGNOSIS

A definite diagnosis of RTS was not available due to non specific symptoms ,but after reviewing time onset of the symptoms especially the skin manifestations and its' association with other symptoms of sparse scalp and eyebrows' hair, short status, cataract ,nail and teeth abnormalities; she is most likely to have RTS, RECQL3,4,5 test was recommended since two thirds of the patient have RECQL4 mutation but the patient didn't agree to do the test.

Blood tests were made after she was diagnosed and they revealed improved haemoglobin ratio 12.4 with normal full chemistry except high cholesterol level.

Brain M.R.I was done as she complained of chronic severe headache with no obvious reason that started 3 months before but M.R.I result was normal with no malignant changes except for parasinusitis and was referred to the ENT specialist for treatment.

TREATMENT PLAN

The patient was informed that her remaining teeth and roots have to be removed in order to make an immediate complete denture.

Extractions were done and impressions for imme-diate denture were made.

While taking the impressions, we had to modify the smallest stock tray size to fit her very small mouth opening and ridges since her lips and face skin was very tight.

Immediate dentures were made and used for the next three months with soft lining material which was changed several times.

Three months later, the patient came to change her immediate dentures for definite ones but upon examination,her palate and right cheek to the level of the retro molar pad area of the mandible and the corner of the mouth were covered with thick hypokeratosed white lesion that had developed within three months.

Biopsy of the white lesion (leukopenia ) was made to exclude any malignant changes which are very common in RTS type 2 patients.

The biopsy result was leukoplakia with no malig-nant change and she was given cortisone for one month.

After taking the cortisone for one month, the lesion improved but didn't cure, so she was informed to do another biopsy six months later.

The definite denture was fabricated with perma-nent soft acrylic material (velloplast). The patient is satisfied and is doing well.

REFERENCES

1. Rothmund A: Uber Cataracte in Verbindung mit einereigen-thuemlichen Hautdegeneration. Albrecht von GraefesArch Klin Exp Ophthal 1868; 14:159-82.

2. Thomson MS: Poikiloderma congenitale. Brit J Dermatol 1936; 48:221-34.

3. Taylor WB: Rothmund’s syndrome-Thomson syndrome. Arch-Dermatol 1957; 75:236-44.

4. Grant SG, Wenger SL, Latimer JJ, Thull D, Burke LW: Analysis of genomic instability using multiple assays in a patient with Rothmund-Thomson syndrome. Clin Genet 2000; 58:209-15.

5. Atlas of Genetics and Cytogenetics in Oncology andHaematology. http://atlasgeneticsoncology.org/Kprones/RothmundID10021.html.

6. Kumar P, Sharma PK, Gautam RK, Jain RK, Kar HK: Late-onset RothmundThomson syndrome. Int J Dermatol 2007; 46:492-93.

7. Sznajer Y, Siitonen HA, Roversi G, Dangoisse C, Scaillon M,Ziereisen F, Tenoutasse S, Kestilä M, Larizza L: Atypical-Rothmund-Thomson syndrome in a patient with compound heterozygous mutations in RECQL4 gene and phenotypic fea-tures in RECQL4 syndromes. Eur J Pediatr 2008; 167:175-81.

8. Dollfus H, Porto F, Caussade P, Speeg-Scatz C, Sahel J,Grosshans E, Flament J, Sarasin A: Ocular Manifestations in the Inherited DNA Repair Disorders. Surv Ophthalmol 2003; 48(1):107-14.

9. WernerSR,PrahaladAK,YangJ,HockJM:RECQL4-deficientcells are hypersensitive to oxidative stress/damage: insights for osteosarcoma prevalence and heterogeneity inRothmund-Thom-son syndrome. Biochem Biophys ResCommun 2006, 345:403-409. Larizza et al. Orphanet Journal of Rare Diseases 2010; 5:2.