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Year : 2019  |  Volume : 20  |  Issue : 3  |  Page : 243-245

Rothmund–Thomson syndrome presenting with bullous eruption: A rare case report

Department of DVL, SGRRIM and HS, Dehradun, Uttarakhand, India

Date of Web Publication28-Jun-2019

Correspondence Address:
Dr. Akshat Tamta
Room No. 3, 1st Floor, Resident Hostel, Department of DVL, SSGRIM and HS, Patel Nagar, Dehradun . 248 001, Uttarakhand
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/ijpd.IJPD_104_18

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Rothmund–Thomson syndrome is a rare, autosomal recessive genodermatosis characterized by an early-onset poikiloderma, skeletal abnormalities, short stature, premature aging, and increased susceptibility to malignancy. We report a case of a 1-year-old male child with bullous lesions and pigmentary changes over the face and extremities. Strict photoprotection and careful surveillance for malignancy forms the mainstay of treatment. The case is being reported due to its rarity and the diagnostic dilemmas associated with it.

Keywords: Bullous lesion, genodermatosis, poikiloderma, Rothmund–Thomson syndrome

How to cite this article:
Tamta A, Bist JS, Gupta G, Saini SP, Singh AK. Rothmund–Thomson syndrome presenting with bullous eruption: A rare case report. Indian J Paediatr Dermatol 2019;20:243-5

How to cite this URL:
Tamta A, Bist JS, Gupta G, Saini SP, Singh AK. Rothmund–Thomson syndrome presenting with bullous eruption: A rare case report. Indian J Paediatr Dermatol [serial online] 2019 [cited 2021 Oct 16];20:243-5. Available from: https://www.ijpd.in/text.asp?2019/20/3/243/261860

  Introduction Top

Rothmund–Thomson syndrome (RTS) is a rare, autosomal recessive genodermatosis, characterized by an early-onset poikiloderma, skeletal abnormalities, short stature, premature aging, and increased susceptibility to malignancy.[1] Depending on the genetic and phenotypic heterogeneity, two clinical forms may be present. RTS-I has poikiloderma, hypogonadism, juvenile cataract, and no identified gene mutation. RTS-II shows poikiloderma, skeletal abnormalities, and a high risk of osteosarcoma, and is caused by the homozygous or compound heterozygous (frameshift/missense) mutations in RECQL4 DNA helicase gene, mapped to chromosome 8q24.3.[2],[3]

  Case Report Top

A 1-year-old male child, born of nonconsanguineous parents, presented with bullous lesions and pigmentary changes over the face and extremities. From 4 months of age he developed erythema and mottled pigmentation, which first appeared over the cheeks and then spread over the forearms, legs, thighs, and buttocks over the period of a year. There was a history of bullae formation over the involved area from the last 2 months [Figure 1]. The developmental milestones were normal and consistent with age. Family history of similar disease was absent, and his elder brother was normal. On examination, there were reticulate erythema and hypopigmented and hyperpigmented atrophic telangiectatic macular lesions over the cheeks, forearms, and legs [Figure 2] and [Figure 3]. Scalp hair and eyelashes were sparse [Figure 2], but teeth and nails were normal. His external genitalia were also normal. Routine hematological, ophthalmic, and skeletal examination was normal. Skin biopsy showed interface dermatitis (vacuolar) with postinflammatory pigmentation (evolving poikiloderma).
Figure 1: Bullous eruption with poikilodermatous changes over leg, thigh, and buttock

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Figure 2: Reticulate erythema and hypopigmented and atrophic telangiectatic macular lesions over the cheeks with sparse hair over the scalp and absence of eyebrows

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Figure 3: Poikilodermatous changes over leg, thigh, and buttock

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  Discussion Top

RTS is a rare syndrome, and only a few cases have been reported in India. The diagnostic hallmark of the syndrome is the cutaneous rash, which usually develops between the age of 3 and 6 months as erythema, swelling, and blistering on the face, which subsequently spreads to the extremities ( first on the extensor, then on the flexor surfaces) and to the buttocks.[4] Sparse scalp hair, eyebrows, and eyelashes are usually seen. Dental abnormalities such as microdontia, conical teeth, caries, and loss of teeth can be observed. Nails may be normal or dystrophic. Early-onset, bilateral, and subcapsular cataracts (originally described by Rothmund), usually develop in 49% of cases.[5] However, they can also develop later, in the 4th and 7th year of life. Bony abnormalities such as absent radii, short hands and feet, delayed bone age, osteogenesis imperfecta, and osteoporosis can be seen.[5],[6] Intelligence level is usually normal, but physical growth retardation and short stature are observed. Cutaneous, bony, and hematological malignancies[7] are common, but life expectancy may be normal unless malignancy is associated.[4] In our patient, we observed the characteristic poikiloderma lesions over the cheeks, which appeared at the age of 4 months. Later, these lesions spread to the other parts of the body, including forearms, thighs, and buttocks. The progression of the lesions and appearance of blisters over the photo exposed areas indicated photosensitivity. The poikilodermatous changes in the skin were confirmed by biopsy. Other clinical features that favored the diagnosis were sparse hair over the scalp and the absence of eyebrows. No bony abnormality was found on clinical examination and radiological evaluation. There were no abnormal findings on ocular examination.

The diagnosis of RTS is made mainly by characteristic clinical features at presentation, as observed in our patient. Differentiation from other causes of childhood poikiloderma such as Kindler's syndrome, Cockayne's syndrome, acrokeratotic poikiloderma, sclerosing poikiloderma, dyskeratosis congenita, acrogeria, and xeroderma pigmentosum is to be done. Rare disorders with prominent telangiectasias, such as Bloom's Syndrome, Fanconi's anemia, and ataxia telangiectasia are also to be differentiated from this disorder. Strict photoprotection and regular screening for malignancy, with proper counseling of the parents, form the mainstay of management.

  Conclusion Top

The rarity of the disease and its wide clinical presentation poses a diagnostic dilemma. Characteristic clinical findings and biopsy lead to the diagnosis. RTS has a normal life expectancy if no malignancy occurs. Photoprotection and regular screening for malignancy is the mainstay of management. Retinoids and laser have shown a possibility to improve the skin lesions for a cosmetic purpose in later life.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

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Conflicts of interest

There are no conflicts of interest.

  References Top

Wang LL, Plon SE. Rothmund-Thomson syndrome. In: Pagon RA, Adam MP, Ardinger HH, McDonald-McGinn DM, Emanuel BS, Zackai EH, et al., editors. GeneReview. Seattle, WA: University of Washington; 1993-2014.  Back to cited text no. 1
Manavi S, Mahajan VK. Rothmund-Thomson syndrome. Indian Dermatol Online J 2014;5:518-9.  Back to cited text no. 2
  [Full text]  
Kitao S, Shimamoto A, Goto M, Miller RW, Smithson WA, Lindor NM, et al. Mutations in RECQL4 cause a subset of cases of Rothmund-Thomson syndrome. Nat Genet 1999;22:82-4.  Back to cited text no. 3
Larizza L, Roversi G, Volpi L. Rothmund-Thomson syndrome. Orphanet J Rare Dis 2010;5:2.  Back to cited text no. 4
Vennos EM, Collins M, James WD. Rothmund-Thomson syndrome: Review of the world literature. J Am Acad Dermatol 1992;27:750-62.  Back to cited text no. 5
Harper JI. Genetics and genodermatosis. In: Champion RH, Burton JL, Burns DA, Breathnach SM, editors. Rook's Textbook of Dermatology. 6th ed., Vol. 1. London: Blackwell Science; 1998. p. 357-436.  Back to cited text no. 6
Pianigiani E, De Aloe G, Andreassi A, Rubegni P, Fimiani M. Rothmund-Thomson syndrome (Thomson-type) and myelodysplasia. Pediatr Dermatol 2001;18:422-5.  Back to cited text no. 7


  [Figure 1], [Figure 2], [Figure 3]


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