10.5826/dpc.1303a155
text/xml
2160-9381
2961
en
Shipra Agarwal
https://creativecommons.org/licenses/by-nc/4.0
Dermatology Practical & Conceptual
non-Langerhans cell histiocytosis
Erdheim Chester Disease: A Rare Entity from North India
Text.Serial.Journal
https://dpcj.org/index.php/dpc
Research Letter
2023-07-31
2022-11-09
2023-07-31
2023-08-24
e2023155
Dermatol Pract Concept
Shipra Agarwal
2023/07/31
10.5826/dpc.1303a155
e2023155
Department of Pathology, All India Institute of Medical Sciences, New Delhi, India
2160-9381
non-Langerhans cell histiocytosis
en
e2023155
Veyssier-Belot C, Cacoub P, Caparros-Lefebvre D, Wechsler J, Brun B, Remy M, et al. Erdheim-Chester disease. Clinical and radiologic characteristics of 59 cases. Medicine (Baltimore). 1996 May;75(3):157–69. DOI: 10.1097/00005792-199605000-00005.
Erdheim Chester Disease: A Rare Entity from North India
https://dpcj.org/index.php/dpc/article/download/2961/2252
                 Erdheim Chester Disease: A Rare Entity
                           from North India
 Bhavya Swarnkar1, Gouri Renuka Pushpanandan Anand1, Somesh Gupta1, Shipra Agarwal2


1 Department of Dermatology, Venereology and Leprosy, All India Institute of Medical Sciences, New Delhi, India
2 Department of Pathology, All India Institute of Medical Sciences, New Delhi, India



Key words: Erdheim Chester disease, non-Langerhans cell histiocytosis, setting sun, BRAF
Citation: Swarnkar B, Anand GRP, Gupta S, Agarwal S. Erdheim Chester disease: A rare entity from North India. Dermatol Pract Concept.
2023;13(3):e2023155. DOI: https://doi.org/10.5826/dpc.1303a155
Accepted: January 6, 2023; Published: July 2023
Copyright: ©2023 Swarnkar et al. This is an open-access article distributed under the terms of the Creative Commons Attribution-
NonCommercial License (BY-NC-4.0), https://creativecommons.org/licenses/by-nc/4.0/, which permits unrestricted noncommercial use,
distribution, and reproduction in any medium, provided the original authors and source are credited.
Funding: None.
Competing interests: None.
Authorship: All authors have contributed significantly to this publication.
Corresponding author: Dr Somesh Gupta, Department of Dermatology, All India Institute of Medical Sciences, Ansari Nagar East,
New Delhi-110029 Phone: 9868899120 E-mail: someshgupta@hotmail.com




   Patient consent was taken before sending the report for publication




Case Presentation                                                             Skin biopsy showed features of xanthogranulomatous
                                                                         tissue response. Cells were immune-positive for CD68 but
A man in his 40s presented with yellowish brown pap-                     negative for S100 and CD1a. V600EBRAF mutation was
uloplaques over bilateral eyelids for the past 3.5 years                 positive.
(Figure 1A). He complained of a mildly tender, skin-colored,                  Whole body PET scan showed increased FDG uptake
cystic swelling over the left shin, diffuse pain over bilateral          over bilateral lower eyelids, hypermetabolic thickening in-
legs, polydipsia, and polyuria for the past 2 years.                     volving the left renal pelvis extending to a calyceal system
    Dermoscopy showed a ‘setting sun’ sign consisting of yel-            with left moderate and right mild hydronephrosis.
lowish background with subtle erythema at the periphery.                      Serum osmolality was 292 mOsm/kg while urine os-
Increased pigment network and whitish areas were present.                molality was 93 mOsm/kg suggestive of diabetes insipidus.
Branching linear vessels of variable thickness were also seen            Based on history, examination, and investigations, we made
throughout the lesion (Figure 1B).                                       the diagnosis of Erdheim Chester disease (ECD).
    X-rays of the skull and extremities showed lytic lesions
with sclerotic margin in bilateral femurs, tibia, (Figure 1C)
fibula, radius, ulna, and skull (Figure 1D).



Image Letter | Dermatol Pract Concept. 2023;13(3):e2023155                                                                          1
Figure 1. (A) Yellowish brown papuloplaques over bilateral eyelids. (B) ‘Setting sun’ sign, increased pigment network, whitish areas, and
branching linear vessels (using hand held polarized dermatoscope IDS1100, ILLUCO, KOREA). (C) Lytic lesions with sclerotic margin in
metaphyseal and diaphyseal region of femur and tibia. (D) Lytic lesions with sclerotic margin in skull.



Teaching Point                                                        References
ECD should be ruled out in patients with periocular                    1. Oweity T, Scheithauer BW, Ching HS, Lei C, Wong KP. ­Multiple
                                                                          system Erdheim-Chester disease with massive hypothalamic-sellar
xanthelasma-like plaques with associated systemic symp-
­
                                                                          involvement and hypopituitarism. J ­Neurosurg. 2002;96(2):
toms like bone pain, and diabetes insipidus. Bony lytic
                                                                          344–351. DOI: 10.3171/jns.2002.96.2.0344. PMID: 11838810.
lesions, as seen in our patient, have been reported uncom-             2. Veyssier-Belot C, Cacoub P, Caparros-Lefebvre D, et al.
monly in around 5-30% of the cases of ECD [1,2]. We also                  Erdheim-Chester disease. Clinical and radiologic characteris-
                                                                          ­
described dermoscopy features.                                            tics of 59 cases. Medicine (Baltimore). 1996;75(3):157–169.
                                                                          DOI: 10.1097/00005792-199605000-00005. PMID: 8965684.




2                                                                            Image Letter | Dermatol Pract Concept. 2023;13(3):e2023155
