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CASE REPORT
Year : 2020  |  Volume : 21  |  Issue : 1  |  Page : 63-65

Poikiloderma with novel gene mutation


Department of Dermatology, Seth GS Medical College and KEM Hospital, Mumbai, Maharashtra, India

Date of Submission01-Oct-2019
Date of Decision27-Oct-2019
Date of Acceptance27-Nov-2019
Date of Web Publication24-Dec-2019

Correspondence Address:
Dr Anuja Sunkwad
Department of Dermatology, Seth GS Medical College and KEM Hospital, Parel, Mumbai - 400 012, Maharashtra
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/ijpd.IJPD_98_19

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  Abstract 


Poikiloderma is characterized by mottled pigmentation, telangiectasia, and epidermal atrophy. It is a common cutaneous finding in a number of genodermatoses. We present a case of a 13-month-old male child with poikiloderma, heat intolerance, and photosensitivity, which made us evaluate him for poikiloderma-associated syndromes. The diagnosis of Hereditary Fibrosing Poikiloderma (HFP) was done based on the genetic study which showed mutation in FAM 111B gene.

Keywords: Anhidrosis, FAM 111b gene, fibrosis, poikiloderma


How to cite this article:
Mahajan S, Sunkwad A, Darkase B, Khopkar U. Poikiloderma with novel gene mutation. Indian J Paediatr Dermatol 2020;21:63-5

How to cite this URL:
Mahajan S, Sunkwad A, Darkase B, Khopkar U. Poikiloderma with novel gene mutation. Indian J Paediatr Dermatol [serial online] 2020 [cited 2020 Apr 8];21:63-5. Available from: http://www.ijpd.in/text.asp?2020/21/1/63/273850




  Introduction Top


Poikiloderma is characterized by mottled pigmentation, telangiectasia, and epidermal atrophy. It is a common cutaneous finding in a number of genodermatoses. Poikiloderma of the skin can act as window for subsequent genetic testing in diagnosis, to inform the likely associated features and prognosis of the disease. We present a case of a 13-month-old male child with poikiloderma, heat intolerance, and photosensitivity, which made us evaluate him for poikiloderma-associated syndromes, and the diagnosis of hereditary fibrosing poikiloderma (HFP) was done based on the genetic study which showed mutation in FAM 111B gene.


  Case Report Top


A 13-month-old male child presented with complaints of abnormal skin color since day 18th of birth. He is a second child born out of nonconsanguineous marriage to healthy parents; the older sibling is a boy without any obvious abnormality. No other family member affected with similar complaints. According to his parents, the child was apparently all right till 18th day after birth when he started getting fever with red rash over face and distal extremities; later, rash resolved in a month to leave behind hypo- and hyper-pigmented macules. At the age of 4th month, the child had one episode of sudden onset of few clear fluid-filled vesicles over extremities and face which resolved spontaneously leaving behind hyperpigmentation. Parents also gave a history of sudden onset of loss of hair over the scalp, eyelashes, and eyebrows at the same time; later, light golden color hair regrew spontaneously. Parents also reported a history of photosensitivity, decreased sweating in the child, and extreme intolerance to heat since birth.

Cutaneous examination [Figure 1], [Figure 2], [Figure 3], [Figure 4] revealed multiple discrete tiny hypopigmented and hyperpigmented macules distributed predominantly over photoexposed areas, with dermoscopically visible telangiectasia over the face, suggestive of poikiloderma. There were multiple discrete tiny scaly eczematous papules over the trunk and both the extremities. Light golden-colored hair with decreased density of scalp hair was noted. Nails and teeth were normal. Ophthalmic evaluation was suggestive of keratoconjunctivitis with slight ectropion. The child has achieved age-appropriate milestones with no systemic abnormality. There was neither history of fever nor any constitutional symptoms. All routine blood investigations were normal. Urinary porphyrin levels and direct immunofluorescence of lesional skin were negative. Skin biopsy was performed from poikilodermatous area over back which showed [Figure 5] and [Figure 6] focal atrophy with basal cell vacuolization, melanin incontinence, and decreased sweat units in the dermis.
Figure 1: Poikiloderma over face and sparse light brown hair

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Figure 2: Poikiloderma over the back

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Figure 3: Discrete tiny eczematous papules and poikiloderma over the abdomen

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Figure 4: Eczematous and poikilodermatous lesions over legs

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Figure 5: Decreased sweat units in the dermis suggestive of epidermal and appendageal atrophy

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Figure 6: Focal flattening of rete ridges, focal basal cell vacuolization, and melanin incontinence

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Based on history and clinical features, poikilodermatous conditions such as Kindler syndrome, Rothmund–Thomson syndrome, Werner syndrome, and Bloom syndrome were considered as differentials.[1] A genetic study was performed on the patient's serum. Whole-exome sequencing showed mutation in FAM 111 B gene located on chromosome 11q12.1 confirming the diagnosis of HFP.


  Discussion Top


HFP is an autosomal dominant (in 50% cases) genetically transferred disorder caused by mutation in FAM 111B gene located on chromosome 11q12.1.[2] Other 50% of cases are sporadic. Exact function of this gene is yet not well understood, but this gene provides instruction for making a protein that is found in many parts of body, particularly in the skin, muscle, lungs, and pancreas.[2],[3],[4] Abbreviation used for HFP is POIKTMP [2] (poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis). Phenotype of the cases may differ from each other. Very few around 25 such cases have been reported in medical literature.[2]

Mercier et al.[3] reported a series of 10 families of which 15 had mutation in FAM 111B gene. This series of cases helped us to better understand the wide range of phenotypic presentation associated with FAM 111B gene mutation [Table 1].
Table 1: Comparative analysis of findings in previously reported cases and our case[3],[4]

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As shown in [Table 1], there is a wide range of variability in clinical features of HFP. In our case, family history was negative which denotes sporadic nature of this condition. The common cutaneous manifestations shared by our case with prototype cases found in literature were poikiloderma, sparse hair, anhidrosis, heat intolerance, photosensitivity, and eczematous skin rash. Some patients may exhibit only cutaneous abnormalities with or without muscle contracture or other system involvement which usually occurs in later life. Grievous symptoms such as pulmonary fibrosis affect only adults and associated with life-threatening systemic manifestations.[3],[4] Since the course of the disease is unpredictable, long-term follow-up of these patients is required for better management of patient.

Our case demonstrates variability in clinical features of HFP and importance of cutaneous examination along with genetic study to establish the diagnosis. We highlight the rarity of this syndrome, and to the best of our knowledge, no Indian case reports are available till now.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient has given his consent for his images and other clinical information to be reported in the journal. The patient understands that his name and initial will not be published, and due efforts will be made to conceal his identity, but anonymity cannot be guaranteed.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 
  References Top

1.
Irvine A, Mellerio J. Poikiloderma syndromes. In: Griffiths C, Barker J, Bleiker T, Chalmers R, editors. Rook's Textbook of Dermatology. 9th ed. West Sussex, U.K: John Wiley & Sons Ltd; 2016. p. 2003-10.  Back to cited text no. 1
    
2.
Genetics Home Reference February 2017, Hereditary Fibrosing Poikiloderma with Tendon Contractures, Myopathy, and Pulmonary Fibrosis, Viewed 12 November, 2019. Available from: https://ghr.nlm.nih.gov/condition/hereditary-fibrosing- poikiloderma-with-tendon-contractures-myopathy-and- pulmonary-fibrosis. [Last accessed on 2019 Nov 12].  Back to cited text no. 2
    
3.
Mercier S, Küry S, Shaboodien G, Houniet DT, Khumalo NP, Bou-Hanna C, et al. Mutations in FAM111B cause hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis. Am J Hum Genet 2013;93:1100-7.  Back to cited text no. 3
    
4.
Khumalo NP, Pillay K, Beighton P, Wainwright H, Walker B, Saxe N, et al. Poikiloderma, tendon contracture and pulmonary fibrosis: A new autosomal dominant syndrome? Br J Dermatol 2006;155:1057-61.  Back to cited text no. 4
    


    Figures

  [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6]
 
 
    Tables

  [Table 1]



 

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