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Darier's sign

Published:January 06, 2022DOI:https://doi.org/10.1016/j.ejim.2022.01.004

      1. Case description

      A 38-year-old Caucasian male presented with a ten-year history of back pains, dyspepsia and allergic rhinitis and conjunctivitis treated with non-steroidal antirheumatic drugs and on-demand antihystamines. During this time, slowly progressive brownish freckles and patches on the trunk and the extremities began to occur. Because the patient was an entrepreneur with a busy working schedule, he did not pursue any further medical workup. However, due to increasing back pains, he underwent regular massages, and after these treatments, the skin on the back usually became swollen, itchy and red (Fig. 1A), necessitating the use of antihystamines. The patient was eventually referred to a dermatologist. Except for the rash, the clinical status of the patient was unremarkable. Blood counts were also normal. What is the diagnosis?
      Fig 1
      Fig. 1A) Brownish macules and papules on the back with an overlying urticarial rash occurring after a massage, B) Numerous spindle-shaped cells infiltrating the dermis, C) The CD117 immunohistochemistry stain.

      2. Discussion

      The biopsy of involved skin demonstrated numerous spindle-shaped CD117+ mast cells infiltrating the dermis (Figs. 1B and 1C). Serum tryptase levels were 35 ng/mL and the c-KIT (D816V) mutation was detected by real-time polymerase chain reaction in the bone marrow, finally confirming the diagnosis of indolent systemic mastocytosis [
      • Pardanani A.
      Systemic mastocytosis in adults–2021 update on diagnosis, risk stratification and management.
      ]. Due to bone pains, the patient was additionally treated with pegylated interferon. After six months of treatment, complete resolution of back pains, rhinitis, conjunctivitis and dyspepsia was noted, with a minor regression of the skin lesions.
      Systemic mastocytosis is a heterogeneous disorder characterized by accumulation of the neoplastic mast cells in different organs [
      • Pardanani A.
      Systemic mastocytosis in adults–2021 update on diagnosis, risk stratification and management.
      ]. Unlike children, where mastocytosis is usually limited to the skin and can spontaneously regress, the disorder in adults is typically systemic with an almost universal involvement of the skin and bone marrow [
      • Berezowska S.
      • Flaig M.J.
      • Ruëff F.
      • et al.
      Adult-onset mastocytosis in the skin is highly suggestive of systemic mastocytosis.
      ]. The Darier's sign is pathognomonic of cutaneous mastocytosis and refers to mast cell degranulation with subsequent hystamine release in parts of the skin infiltrated by mast cells. However, the Darier's sign must not be confused with other forms of dermographism where rubbing of the uninvolved skin also produces urtication. This 'mast cell activation syndrome' is also responsible for the systemic symptoms associated with the disease, such as rhinitis, conjunctivitis, dyspepsia, osteoporosis and anaphylaxis [
      • Pardanani A.
      Systemic mastocytosis in adults–2021 update on diagnosis, risk stratification and management.
      ]; therefore, when this constellation of symptoms is present, the clinicians should always remember to look for systemic mastocytosis.

      Declaration of Competing Interest

      None.

      Ethics

      The patient provided informed consent for this report.

      References

        • Pardanani A.
        Systemic mastocytosis in adults–2021 update on diagnosis, risk stratification and management.
        Am J Hematol. 2021; 96: 508-525
        • Berezowska S.
        • Flaig M.J.
        • Ruëff F.
        • et al.
        Adult-onset mastocytosis in the skin is highly suggestive of systemic mastocytosis.
        Mod Pathol. 2014; 27: 19-29