A 1-year-old girl was brought to our clinic by her parents with the complaint of papulosquamous
lesions covered with hemorrhagic crusts on the anterior trunk. The patient had developed
erythematous squamous plaques on the scalp, inguinal region, and the face at the age
of 3 months. The patient was given a therapy of topical steroids and oral antihistaminic
drugs. However, the lesions did not resolve. Dermatological examination revealed papulosquamous
papules and plaques covered with hemorrhagic crusts on the scalp, skin folds, and
on the anterior trunk [Figure 1]. The patient had a history of frequent otitis media.
Hematological investigations indicated presence of pancytopenia. Ultrasonography showed
lymphadenopathy in the cervical region. Histopathologic evaluation of the lesions
on the anterior trunk showed mononuclear cell infiltration in the interstitial region
in the papillary and reticular dermis and histiocytic cell infiltration in the papillary
dermis [Figure 2a]. Immunohistochemical analysis indicated CD1a surface antigen (+)
and S100 protein (+) [Figure 2b and c].
Figure 1
Dermatological examination revealed papulosquamous papules and plaques covered with
hemorrhagic crusts on the scalp, skin folds, and on the anterior trunk
Figure 2
(a) Mononuclear cell infiltration in the interstitial region in the papillary and
reticular dermis and histiocytic cell infiltration in the papillary dermis (H and
E, ×200). (b) Immunohistochemical analysis indicated CD1a surface antigen (+) (×200).
(c) Immunohistochemical analysis indicated S100 protein (+) (×200)
What Is Your Diagnosis?
Answer
Langerhans cell histiocytosis.
Discussion
Langerhans cell histiocytosis (LCH) is a rare disease that involves clonal proliferation
of Langerhans cells which immunophenotypically stain positive for S100, CD1a and langerin.
The cytoplasmic Birbeck granules are an ultrastructural hallmark of LCH.[1] LCH may
be seen at any age including neonates but it mostly affects children aged 1–3 years.
Male-to-female ratio is almost 2/1. In some cases, LCH may be associated with the
family history.[2] Moreover, although the exact etiology and pathogenesis of LCH remains
unknown, multiple factors have been implicated, including defective immune system,
infections, environmental factors, a family history of thyroid disease, and insufficient
vaccination.[3] LCH becomes more diffuse as the age of the patient advances; while
acute diffuse multiple-organ failure mostly occurs in children aged below 3 years,
the indolent course of LCH with single organ involvement is mostly seen in older children
and adults.[2
4] Our case had multifocal LCH.
Clinical findings of LCH vary according to the organs involved and the diffuseness
of the disease. Although LCH is limited to a single organ such as a bone in almost
55% of the patients, it involves multiple organs in other patients. The most commonly
involved organs are the bones (77%), followed by skin (39%), lymph nodes (19%), liver
(16%), spleen (13%), oral mucosa (13%), and central nervous system (6%).[4
5] In most of the patients with skin involvement, LCH is characterized by brown-purple
papules measuring 1–2 mm in size and distributed in the scalp, neck folds, axilla,
perineum, and trunk. Moreover, pustular, purpuric, petechial, vesicular, and papulonodular
lesions may also be seen. In addition, brittle nails, hyperkeratosis, paronychia,
onycholysis, or permanent nail dystrophies have also been reported.[2
4
5]
Definitive diagnosis of LCH is often established by the pathologic analysis of the
affected tissue. Skin biopsy of the lesions is usually recommended. Histopathologic
analysis of LCH often indicates proliferation of LCH cells in the papillary dermis.
Dermal LCH cells are often admixed with eosinophils, neutrophils, lymphocytes, and
plasma cells. Immunohistochemically, LCH cells stain positive for CD1a and S100 proteins.
Presence of Birbeck granules can be detected with electron microscopy.[1
6]
Treatment of LCH may not be required in all cases as isolated skin lesions may resolve
spontaneously. In patients with skin-limited LCH, a therapy including topical corticosteroids,
20% topical nitrogen mustard, and photochemotherapy (PUVA) could be prescribed.[2
6] By presenting the current case, we aim to highlight the probability of rare manifestation
of hemorrhagic papules and plaques in LCH with skin involvement.
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Conflicts of interest
There are no conflicts of interest.