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Year : 2018  |  Volume : 9  |  Issue : 5  |  Page : 341-342  

Prevalence and association of dermatological manifestations with fanconi anemia: A retrospective study

Department of Cytogenetics, National Institute of Immunohaematology, King Edward Memorial (KEM) Hospital Campus, Mumbai, Maharashtra, India

Date of Web Publication4-Sep-2018

Correspondence Address:
Babu R Vundinti
Department of Cytogenetics, National Institute of Immunohaematology, King Edward Memorial (KEM) Hospital Campus, Mumbai - 400 012, Maharashtra
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/idoj.IDOJ_368_17

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How to cite this article:
Shukla P, Korgaonkar S, Kerketta L, Vundinti BR. Prevalence and association of dermatological manifestations with fanconi anemia: A retrospective study. Indian Dermatol Online J 2018;9:341-2

How to cite this URL:
Shukla P, Korgaonkar S, Kerketta L, Vundinti BR. Prevalence and association of dermatological manifestations with fanconi anemia: A retrospective study. Indian Dermatol Online J [serial online] 2018 [cited 2021 Apr 19];9:341-2. Available from: https://www.idoj.in/text.asp?2018/9/5/341/240535


Fanconi anemia (FA) is a rare, autosomal, or X-linked genetic disorder characterized by chromosome instability, bone marrow failure, physical abnormalities, and predisposition to leukemia and solid tumors at later stages of life.[1] Despite the fact that dermatological abnormalities are manifested in most FA patients, no detailed analysis is available on the prevalence of various dermatological manifestations observed in FA. Prevalence of dermatological manifestations was analyzed in suspected FA patients as well as in patients who were found to be positive for FA by chromosome breakage analysis. Relative frequency of each dermatological manifestation was calculated to study its prevalence. Relative frequency was defined as the percentage ratio of the number of patients having that dermatological manifestation to the total number of patients. The association of dermatological manifestation with FA was studied by calculating the ratio of confirmed FA patients found positive by chromosome breakage analysis to the total number of suspected FA patients of this group at an initial stage. Patient group with no skin pigmentation was taken as control group to calculate P value. Statistical analysis was performed using Statistical Package for the Social Sciences (SPSS), version 17.0 (SPSS Inc., Chicago, IL, USA). P values were estimated from two-tailed Fisher's exact test and were considered significant when P < 0.05.

We observe that in suspected FA patients, number of patients with some form of skin pigmentation (63.44%) was substantially higher than the number of patients without any skin pigmentation (36.91%). Among skin pigmentation, petechiae/purpura (46.23%) was seen in majority of patients followed by generalized hyperpigmentation (10.39%) in suspected FA patients. Other dermatological manifestations had relatively low frequency. Among these 279 suspected FA patients, chromosome breakage analysis revealed that 38 (13.62%) patients had significantly high chromosome breakages and thus diagnosed as FA. Among FA confirmed patients, petechiae/purpura was most prevalent (34.21%) followed by generalized hyperpigmentation (31.57%). Prevalence of other skin manifestations such as ecchymosis, hypopigmentation, and café-au-lait spots was found to be rare. Only 21.05% of FA patients had no skin pigmentation.

To find out the association of a dermatological manifestation with FA, when the total number of patients of each dermatological manifestation who were confirmed as FA by chromosome breakage analysis were compared with total number of patients of that dermatological group at the initial stage, it was found that café-au-lait spots showed significantly high association with FA (44.44%, P = 0.0074), although have relatively low prevalence among FA patients (10.52%). The second most common dermatological manifestation significantly associated with FA was generalized hyperpigmentation (42.85%, P = 0.0001). Other manifestations were not significantly associated with FA such as ecchymosis (P = 0.1224), petechiae/purpura (P = 0.6477), and hypopigmentation (P = 1.00). Our results showed that dermatological manifestations such as café-au-lait spots and generalized hyperpigmentation are significantly associated with FA. This observation is of particular importance in assisting clinicians to suspect FA and can arrive at an early diagnosis of FA.

It is therefore proposed that presence of café-au-lait spots and generalized hyperpigmentation should be given a priority in the screening process of FA, as they are highly associated with FA. It may be highlighted that the café-au-lait spots are also seen in another chromosome breakage disorder, Bloom syndrome. As the clinical features of FA and Bloom syndrome overlap, it is important to rule out Bloom syndrome in the patient. Generalized hyperpigmentation is also a feature of Addison's disease,[2] but clinical and biochemical profile differs from FA. In Addison's disease, hyperpigmentation occurs over the entire body, but often brown color spots or scars are also seen. The nail beds and the oral mucosa may also become hyperpigmented. Several prevalence and classification studies on various nondermatological manifestations observed in FA have been reported in the recent past.[3],[4],[5] Our study is the first to analyze prevalence of different types of dermatological manifestations and their association with FA. The study has its own strengths and limitations. It is the first study in which a retrospective analysis has been done to access prevalence and association of various skin manifestations with FA. This study is also important, as it provides important data on reasonably large number of patients from India.

Financial support and sponsorship

The study was carried out with Institutional core grant.

Conflicts of interest

There are no conflicts of interest.

   References Top

D'Andrea AD. Susceptibility pathways in Fanconi's anemia and breast cancer. N Engl J Med 2010;20:1909-19.  Back to cited text no. 1
Kim HW. Generalized oral and cutaneous hyperpigmentation in Addison's disease. Odontostomatol Trop 1988;11:87-90.  Back to cited text no. 2
Tsilou ET, Giri N, Weinstein S, Mueller C, Savage SA, Alter BP. Ocular and orbital manifestations of the inherited bone marrow failure syndromes: Fanconi anemia and dyskeratosis congenita. Ophthalmology 2010;117:615-22.  Back to cited text no. 3
Açikgöz A, Ozden FO, Fisgin T, Açikgöz G, Duru F, Yarali N, et al. Oral and dental findings in Fanconi's anemia. PediatrHematolOncol2005;22:531-9.  Back to cited text no. 4
Saleh A, Stephen LX. Oral manifestations of Fanconi's anaemia: A case report. SADJ 2008;63:028-031.  Back to cited text no. 5


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