Case report

Rare skeletal abnormalities in Rothmund–Thomson

syndrome: a case report

Krishnarao V. Pasagadugula, MD, Teja Chennamsetty, MBBS, Krishnaveni Avvaru, MD,and Kavya Chennamsetty, MD

Department of Dermatology, Andhra

Medical College, Visakhapatnam, Andhra

Pradesh, India

Correspondence

Krishnarao V. Pasagadugula, MD

50-121-63/1

BS layout

Visakhapatnam 530013

Andhra Pradesh, India

E-mail: drkrishnarao1986@gmail.com

Conflicts of interest: None.

doi: 10.1111/ijd.12723

Introduction

Rothmund–Thomson syndrome (RTS) is a rare autosomalrecessive photosensitive genodermatosis1–3 characterizedby poikilodermatous skin rash, short stature, and prema-ture aging.3–5 Two types were described and in type 2RTS, congenital bone defects with an increased risk ofosteosarcoma were reported.3,5 Few studies focused on vis-ible osseous changes such as frontal bossing, saddle nose,and absence of the thumb.3,6–8 Other reports showed longbone defects, including radial ray defects.6,7 In a small setof patients with RTS, dental anomalies, nail dystrophy,and palmoplantar hyperkeratosis were described.3,4,9 Fewconditions having poikilodermatous skin changes such asKindlers’, Bloom’s, and Werner’s syndromes should beconsidered under differential diagnosis.3 Treatmentincludes sun protection and surgical removal of cataractsas and when they were detected.3,4,10,11 As an extension tothe existing spectrum of skeletal features, we report a caseof RTS with rare osseous abnormalities.

Case report

A 4-year-old boy, born to healthy parents with a historyof consanguinity, was brought to the outpatientDepartment of Dermatology, Andhra Medical College(Visakhapatnam, Andhra Pradesh, India), with complaintsof redness and rash over the face, arms, and upper trunk

of two years’ duration. There was a history of delayedmilestones and recurrent vomiting and diarrhea. Skin wasnormal at birth. From the age of two years, his mothernoticed episodes of rash with swelling and small blistersover the face following exposure to sunlight.On physical examination, diffuse erythema with mottled

pigmentation and atrophy was seen on the face (Fig. 1),arms, and V of the neck. Features such as frontal bossing,depressed nasal bridge, and small chin were noticed. Hisears were normal. Scalp hair was sparse and blonde. Hiseyebrows and eyelashes were scanty (Fig. 2). Teeth andnails were normal. Genital examination showed retractedprepuce and empty scrotal sac on the left side. Examina-tion of hands (Figs. 3 and 4) and feet showed bilateralabsence of the little finger and absence of the third toe ofthe right foot. There was a deep cleft between the secondand fourth toes extending up to the junction of the distalthird to middle third of the right foot (Fig. 7). Digitalx-rays of both hands showed absence of the fifth metacar-pal and phalanges of the fifth finger bilaterally with normalbone density (Figs. 5 and 6). X-ray of the right footshowed absence of the third metatarsal and phalanges ofthe third toe, and a single tarsal bone with normalbone density (Fig. 8). Skull x-ray showed increasedanteroposterior diameter (dolicho-cephaly) (Fig. 9). Hema-tological examination revealed no abnormalities exceptmicrocytic hypochromic anemia with reactive lymphocyto-sis. Ultrasound examination of the abdomen showed hypo-

ª 2014 The International Society of Dermatology International Journal of Dermatology 2014

1

plastic left testis at the deep inguinal ring. Examination ofother systems such as eyes, respiratory, cardiovascular,and central nervous system revealed no abnormalities.

Discussion

Rothmund–Thomson syndrome is a rare autosomal reces-sive genodermatosis. The features described by Rothmundand Thomson such as poikilodermatous skin rash andosseous deformities were seen in our case, and in our

Figure 5 X-ray showing absence of metacarpal andphalanges of little finger

Figure 2 Bird-like facies

Figure 3 Absence of little finger (left hand)

Figure 4 Absence of little finger (right hand)

Figure 1 Poikilodermatous features

International Journal of Dermatology 2014 ª 2014 The International Society of Dermatology

Case report Rothmund-Thomson syndrome: a case report Pasagadugula et al.2

case, features such as sparse scalp hair and scanty eye-brows and eyelashes were in concurrence with a studydone by Wang et al.10 Dental anomalies, nail abnormali-ties, and plantar hyperkeratosis reported by Popadic et al.

and Larizza et al.3,9 were not seen in our case. Gastroin-testinal disturbances such as chronic emesis and diarrheaduring childhood reported earlier by other authors4,12

were present in our case. Myelodysplasia and leukemia,described8 earlier, were not seen in our case except formicrocytic hypochromic anemia with reactive lymphocy-tosis.The incidence of skeletal abnormalities in RTS varies

between 68 and 75% and includes broad clinical andradiological abnormalities.7 Previously undescribed fea-tures such as absence of the little finger of both handsFigure 7 Bifid right foot

Figure 8 X-ray right foot showing absence of middle toe andthird metatarsal and phalanges (right foot)

Figure 9 Dolicocephalic skull

Figure 6 Absence of metacarpal and phalnges of left fifthfinger

ª 2014 The International Society of Dermatology International Journal of Dermatology 2014

Pasagadugula et al. Rothmund-Thomson syndrome: a case report Case report 3

and absence of the right middle toe presenting as a bifidfoot were seen in our case.

Conclusion

Hence, we are reporting this case of RTS with ulnar raydefects and bifid right foot. These rare skeletal featuresmay be considered as an extension to the existingspectrum of skeletal abnormalities in RTS.

References

1 Wang LL, Gannavarapu A, Kozinetz CA, et al.Association between osteosarcoma and deleteriousmutations in the RECQL4 gene in Rothmund Thomsonsyndrome. J Natl Cancer Inst 2003; 95: 669–674.

2 Wolff K, Goldsmith L, Katz S, et al. Fitzpatrick’sTextbook of Dermatology in General Medicine, 2 vols,7th edn. New York, NY: McGraw-Hill Professional,2007.

3 Larizza L, Roversi G, Volpi L. Rothmund-Thomsonsyndrome. Orphanet J Rare Dis 2010; 5: 1–16.

4 Wang LL, Plon SE. Rothmund-Thomson syndrome. In:Pagon RA, Adam MP, Ardinger HH, et al, eds. Gene

Reviews� [Internet]. Seattle (WA): University ofWashington, Seattle; 1993–2014.

5 Cafardi JA. Rothmund-Thomson syndrome. The Manual

of Dermatology. London: Springer-New Delhi, 2013: 97–99.

6 Bolognia JL. Textbook of Dermatology, 2nd edn.St. Louis, MO: Elsevier Publishers, 2008

7 Mehollin-Ray AR, Kozinetz CA, Schlesinger AE, et al.Radiographic abnormalities in Rothmund-Thomsonsyndrome and genotype-phenotype correlation withRECQL4 mutation status. AJR Am J Roentgenol 2008;191: 62–66.

8 Pencovich N, Margalit N, Constantini S. Atypicalmeningoma as a solitary malignancy in a patient withRothmund-Thomson syndrome. Surg Neurol Int 2013; 3:148.

9 Popadic S, Nikolic M, Gajic-Veljic M, et al.Rothmund-Thomson syndrome the first case with plantarkeratoderma and the second with celiac disease. ActaDermatovenerol Alp Panonica Adriat 2006; 15: 90–93.

10 Wang LL, Levy ML, Lewis RA, et al. Clinicalmanifestations in a cohort of 41 Rothmund-Thomsonsyndrome patients. Am J Med Genet 2001; 102: 11–17.

11 Moschella SL, Hurley HJ. Textbook of Dermatology, 3rdedn, Vol. 2. Philadelphia: Saunders Publishers.

12 Hicks MJ, Roth JR, Kozinetz CA, et al. Clinic pathologicfeatures of osteosarcoma in patients with Rothmund-Thomson syndrome. J Clin Oncol 2007; 25: 370–375.

International Journal of Dermatology 2014 ª 2014 The International Society of Dermatology

Case report Rothmund-Thomson syndrome: a case report Pasagadugula et al.4