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 Table of Contents  
CASE REPORT
Year : 2021  |  Volume : 12  |  Issue : 1  |  Page : 46-47

Cutaneous manifestation of sickle cell disease


Department of Pathology, Institute of Medical Sciences and Sum Hospital, Bhubaneswar, Odisha, India

Date of Submission20-Jul-2020
Date of Decision27-Oct-2020
Date of Acceptance21-Nov-2020
Date of Web Publication15-Mar-2021

Correspondence Address:
Dr. Rashmi Patnayak
Department of Pathology, Institute of Medical Sciences and Sum Hospital, Bhubaneswar, Odisha
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/joah.joah_123_20

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  Abstract 

Sickle cell disease (SCD) is an autosomal recessive hemoglobinopathy. SCD patients commonly present with skin ulceration. This case is about a 22-year-old male whose initial presentation was reddish spots on both lower legs. Skin biopsy revealed features of leukocytoclastic vasculitis with sickled red blood cells (RBCs). He was further evaluated with sickling test which was positive. His hemoglobin electrophoresis was reported as sickle-beta thalassemia. This case is presented to emphasize the importance of RBC morphology and high index of suspicion, particularly in dealing with patients from the sickle cell belt area.

Keywords: Sickle cell disease, sickle red blood cells, sickle-beta thalassemia, skin lesion


How to cite this article:
Patnayak R, Das P, Patra S, Bhola RK. Cutaneous manifestation of sickle cell disease. J Appl Hematol 2021;12:46-7

How to cite this URL:
Patnayak R, Das P, Patra S, Bhola RK. Cutaneous manifestation of sickle cell disease. J Appl Hematol [serial online] 2021 [cited 2021 Aug 5];12:46-7. Available from: https://www.jahjournal.org/text.asp?2021/12/1/46/311329


  Introduction Top


Sickle cell disease (SCD) is a genetic disorder. It is characterized by the production of hemoglobin S (HbS). In sickle cell trait, one copy of the abnormal gene expression is noted. In SCD, two copies of genes are produced. SCD is clinically manifested by rapid cell destruction and small-vessel occlusion. This results in pain and ulcerations of the skin. Sickle cell-associated leg ulcers are multifactorial. The precipitating cause may be trauma, infection, and severe anemia. The most common location for leg ulcers is above the medial malleolus (the gaiter area). This occurs due to chronic damage to the microcirculation of the skin.[1]


  Case Report Top


A 22-year-old male presented with reddish spots on bilateral lower legs for the past 12 days [Figure 1]. He attended the dermatology outpatient department where the diagnosis of small-vessel vasculitis was made and skin biopsy was performed. He had no significant family history. Routine hematological examination showed Hb of 9.3 g/dl with peripheral smear showing microcytic hypochromic blood picture. Skin biopsy showed the presence of acute inflammatory cell collection within the epidermis. In the papillary dermis, there is leukocytoclastic vasculitis with an area of hemorrhage filled with red blood cells (RBCs) showing sickle cell morphology [Figure 2]a and [Figure 2]b. The histopathology of skin biopsy was reported as leukocytoclastic vasculitis with sickled RBCs. Following this, sickling test was performed which was positive and Hb electrophoresis showed an HbS level of 67%, Hb Fac 2.8%, HbF 26%, and HbA 2 4.2%. The case was reported as sickle-beta thalassemia (compound heterozygosity for sickle and beta thalassemia, beta S, beta 0 genotype) [Figure 3]. Currently, the patient is receiving anti-sickling treatment and is doing well.
Figure 1: Multiple reddish spots on the right leg

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Figure 2: (a) Neutrophilic collection and sickled red blood cells (H and E, ×200). (b) Sickled red blood cells and leukocytoclastic vasculitis (H and E, ×400)

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Figure 3: Hemoglobin electrophoresis showing sickle-beta thalassemia

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  Discussion Top


SCD is a global health problem.[2] India is estimated to have the second-highest burden of sickle cell anemia (SCA).[3] High index of suspicion is required in evaluating skin lesions, particularly in patients belonging to the typical sickle cell belt area.[4]

SCA is a genetic disease with autosomal recessive inheritance.[5] Here, the gene encoding the human β-globin subunit contains a DNA substitution.[6] This point mutation results in substitution of valine for glutamic acid at the sixth amino acid in the β-globin chain. This resultant protein is known as HbS. SCD is characterized by Hb polymerization. In SCD, the substituted protein undergoes hydrophobic interaction with another Hb molecule in the RBCs distorting the cell's shape.[7] HbS can be associated with other Hb variants, such as HbC, or with β-thalassemia (compound heterozygosity). The compound heterozygous genotypes of SCD are clinically less severe than the genotype of SCA.[2]

Microvascular (small vessel) vaso-occlusion is a common clinical manifestation of HbS polymerization. The rigid, deformed RBCs become entrapped in the microcirculatory system, thereby causing tissue ischemia and associated pain. Chronic skin ulceration about the ankles secondary to chronic anemia has been described in sickle-beta thalassemia cases.[8] In the present case, the patient had multiple reddish spots in both lower legs.


  Conclusion Top


This case is presented to emphasize the evaluation of erythrocyte morphology in histopathology sections.

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 name and initials will not be published and due efforts will be made to conceal identity, but anonymity cannot be guaranteed.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 
  References Top

1.
Ladizinski B, Bazakas A, Mistry N, Alavi A, Sibbald RG, Salcido R. Sickle cell disease and leg ulcers. Adv Skin Wound Care 2012;25:420-8.  Back to cited text no. 1
    
2.
Piel FB, Steinberg MH, Rees DC. Sickle cell disease. N Engl J Med 2017;376:1561-73.  Back to cited text no. 2
    
3.
Hockham C, Bhatt S, Colah R, Mukherjee MB, Penman BS, Gupta S, et al. The spatial epidemiology of sickle-cell anaemia in India. Sci Rep 2018;8:17685.  Back to cited text no. 3
    
4.
Colah RB, Mukherjee MB, Martin S, Ghosh K. Sickle cell disease in tribal populations in India. Indian J Med Res 2015;141:509-15.  Back to cited text no. 4
[PUBMED]  [Full text]  
5.
AlDallal SM. Mini review: Leg ulcers-a secondary complication of sickle cell disease. Int J Gen Med 2019;12:279-82.  Back to cited text no. 5
    
6.
Rees DC, Williams TN, Gladwin MT. Sickle-cell disease. Lancet 2010;376:2018-31.  Back to cited text no. 6
    
7.
Bunn HF. Pathogenesis and treatment of sickle cell disease. N Engl J Med 1997;337:762-9.  Back to cited text no. 7
    
8.
Nienhuis AW, Nathan DG. Pathophysiology and clinical manifestations of the β-thalassemias. Cold Spring Harb Perspect Med 2012;2:A011726.  Back to cited text no. 8
    


    Figures

  [Figure 1], [Figure 2], [Figure 3]



 

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