Rothmund-Thomson syndrome Report of 3 cases

AC Inamadar, A Palit, SB Athalikar, VV Sampagavi, NS Deshmukh

 Department of Dermatology, BLDEA’s SBMP Medical College & Hospital, Bijapur-586103, Karnataka, India

Correspondence Address:
A C Inamadar
Department of Dermatology, BLDEA’s SBMP Medical College & Hospital, Bijapur-586103, Karnataka
India

Introduction

Rothmund-Thomson syndrome (RTS) is a rare genodermatosis presenting in early life with photosensitivity and poikiloderma.[1] Though first reported way back in 1968, only 200 cases of established RTS have been reported worldwide by the year 1992.[2] It is presumed to be inherited as an autosomal recessive disorder.[1] Since we work in an area where intermarriage is very common among all the communities and socioeconomic strata, we had the previlege of seeing three cases of this rare syndrome.

Case Reports

Case-1: A 5-year-old female child, second of the three children of consanguinous parents, presented with history of burning pain and pigmentary changes on sun exposed body parts. Her symptoms started on second day of life as vesicular lesions over face. Gradually she developed intense erythema and progressive speckled pigmentation over face, ′V′ area of neck, front of chest and distal extremities, upto elbows and knees. Skin over the abovesaid areas was thin and atrophic with mottled hyper and hypopigmentation giving a parchment like [Figure - 1] appearance over distal extremities. Teeth and nails were normal. Eyelashes were sparse. On clinical survey, bony abnormalities or cataract were not found. Routine haematological examination was normal. There was no family history of similar disease and the elder sister and younger brother of the patient were normal. Skin biopsy from the effected area on forearm showed flattened epidermis with basal cell degeneration. Dermis showed pigmentary incontinence and moderate lymphocytic infiltration in the upper dermis with dilatation of blood vessels.

Case-2: A 5-year-old male child, born of consaquinous parents, presented with photosensitivity since 1 year of age. Gradually he developed erythema and mottled pigmentation [Figure - 2] over forehead, cheeks, neck and chest. On examination, there were hypopigmented atrophic macular lesions over the abovesaid areas with background erythema. The skin over the dorsa of hands were thin and wrinkled. Frontal thinning of hair, mild recession of chin and depressed nasal bridge gave the child a bird like facies on profile. He had normal teeth and nail with normally descended testicles. Other clinical and laboratory parameters were within normal limits. Siblings of the patient and family members were normal.

Case-3: A 12-year-old female child presented with photosensitivity and progressive poikiloderma since one year of age. She was the only child of consanguineously married parents. In addition, she had short stature, revealing poor physical growth but no hair, tooth or nail abnormalities.

Discussion

Rothmund, a German ophthalmologist and Thomson, a British dermatologist described this poikilodermatous disorder separately at an interval of six decades.[2] Though the associations with skin changes described by each of them were somewhat different, later authors considered these to be the varied features of the same syndrome.[2] Exact pathomechanism of RTS remains still unknown, but DNA repair defect, resulting from chromosomal mutation on 8q 24.3[3] has been reported by some authors.

The disease starts between 3-6 months of age or any time during first 3 years of life.[1],[2] Initial lesions are erythematous patch or edematous plaque over face, sometimes associated with blistering. Gradually progressive poikiloderma develops over all photoexposed areas with flexural sparing. Sometimes covered body parts like buttocks are also involved. Acral hyperkeratosis may develop in later life. Appendageal involvement in the form of gradual thinning and some degree of hair loss in almost all hairy body sites are common. It usually starts over eyebrows & eyelashes.[2] Dystrophic and brittle nails are common and anhidrosis[4] has been reported. In the review by Vennos et al,[2] dental abnormalities in the form of microdontia, conical teeth, frequent caries and loss of teeth were reported in 40% cases. Early onset, bilateral, subcapsular cataract (described originally by Rothmund), were seen in 49% of cases in the same series.[2] Bony abnormalities include absent radii, deformed, short hands and feet, delayed bone age, osteogenesis imperfecta and osteoporosis.[1],[2] The sufferers usually have normal intelligence but physical growth retardation and short stature are not uncommon.[1] Hypogonadism and infertility may be seen in RTS, but pregnancy in affected females have been reported.[5] Different cutaneous, non cutaneous and hematological malignancies[6] are common. Frequent infections are reported inspite of normal immunoglobulin levels. Patients have a normal life span unless malignancy is associated.[1] Stringent photoprotection and routine screening for malignancies are the mainstay of management.

None of our patients had bony, teeth or nail abnormalities. The telangiectasia part of poikiloderma was not appreciable in any of them, which may be attributable to their dark complexion. The first female child had very early onset of disease (2nd day of life) which is very rarely reported in the literature.[2] All the patients were advised photoprotection and kept under regular follow up.

RTS has to be differentiated[1],[2] from other causes of childhood poikiloderma like acrogeria, Kindler′s syndrome, and acrokeratotic poikiloderma, sclerosing poikiloderma dyskeratosis congenita etc. In acrogeria, poikiloderma is limited to acral parts, hair and eye changes are not seen. Diffuse poikiloderma occuring at a later age (2 years) and mucosal fragility are seen in Kindler′s syndrome. In acrokeratotic poikiloderma, marked acral hyperkeratosis and widespread dermatitis are distinquishing features. In sclerosing poikiloderma flexural involvement and sclerodermatous plaques on palms and soles are seen. In dyskeratosis congenita, severe nail involvement is the initial feature followed by poikiloderma conspicuous over neck and leucoplakia at a later age.

Patients with Cockayne′s syndrome may simulate RTS, but subsequently they develope typical facies, limb abnormalities, wasting and neurological manifestations. In xeroderma pigmentosum, early lesions are freckles with poikilodermatous changes in late childhood. Rare disorders with prominent telangiectasias, like Bloom′s syndrome, Fanconi′s anaemia and Ataxia telangiectasia are also to be differentiated from this disorder.

Very few cases of RTS have been reported in Indian literature.7,8 Hence this present communication.

1.	Harper JI. Genetics and Genodermatosis. In: Champion RH, Burton JL, Burns DA, Breathnach SM eds. Rook's Textbook of Dermatology, vol-1. 6th edn. London: Blackwell Science; 1998:357-436. [Google Scholar]
2.	Vennos EM, Collins M, James WD. Rothmund-Thomson Syndrome: Raview of the world literature. J Am Acad Dermatol 1992; 27:750-762. [Google Scholar]
3.	Kitao S, Shimamoto A, Goto M, et al. Mutations in RECQL 3 cause a subset of cases of Rothmund-Thomson Syndrome. Nat Genet 1999; 22:82-84. [Google Scholar]
4.	Snels DGCTM, Bonwes Bavinck JN, Muller H, et al. A female patient with Rothmund-Thomson Syndrome associated with anhidrosis and severe infections of the respiratory tract. Dermatology 1998; 196:260-263. [Google Scholar]
5.	Hallman N. Patiala R. Congenital poikiloderma atrophicans vasculare in a mother and her son. Acta Dermatol Venereol 1951; 1:401-406. [Google Scholar]
6.	Pianigiani E, De Aloe G, Andreasi A, et al. Rothmund-Thomson Syndrome (Thomson-type) and Myelodysplasia. Pediatr Dermatol 2001; 18:422-425. [Google Scholar]
7.	Mani MZ, Sreekumari PS, Chatterjee A, Rothmund-Thomson Syndrome. Ind J Dermatol Venereol Leprol 1979; 45:368. [Google Scholar]
8.	Nanda A, Kanwar AJ, Kapoor MM, et al. Rothmund-Thomson Syndrome in two siblings. Pediatr Dermatol 989; 6:305-308. [Google Scholar]