Dermatology: Practical and Conceptual Research Letter | Dermatol Pract Concept. 2025;15(1):4832 1 What is in a Voice? Deciphering Clue in a Case of Facial Varioliform Scars in a Young Girl Srishti Dabas1, Tanvi Dev1, Vaishnavi Modi1, Yankila Tamang2, Ditixa Patel3, Nikhil Arora3 1 Department of Dermatology, Venereology and Leprosy, Maulana Azad Medical College and Lok Nayak Hospital, New Delhi, India 2 Department of Pathology, Maulana Azad Medical College, New Delhi, India 3 Department of Otolaryngology, Maulana Azad Medical College and Lok Nayak Hospital, New Delhi, India Key words: Genodermatoses, Hoarseness, Monilform Blepharosis, ECM-1 Citation: Dabas S, Dev T, Modi V, Tamang Y, Patel D, Arora N. What’s in a Voice? Deciphering Clue in a Case of Facial Varioliform Scars in a Young Girl. Dermatol Pract Concept. 2025;15(1):4832. DOI: https://doi.org/10.5826/dpc.1501a4832 Accepted: September 11, 2024; Published: January 2025 Copyright: ©2024 Dabas 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. Conflict of Interest: None. Corresponding Author: Tanvi Dev, MD, Department of Dermatology, Maulana Azad Medical College and Lok Nayak Hospital, New Delhi, India. Phone numbers: +91 99582 25519. E-mail: ivnat2008@gmail.com Introduction Lipoid proteinosis (LP), also known as hyalinosis cutis et mucosae is a rare autosomal recessive disorder, characterized by deposition of amorphous hyaline material in skin and other internal organs [1]. Only several hundred cases of LP have been reported in literature [2]. We describe a similar case in young girl. Case Presentation A 7-year-old-girl, born from consanguineous marriage, presented with generalized itching and excoriations, since 1 year of age, along with scars on bilateral cheeks and extremities. She was otherwise healthy and had achieved developmental milestones adequate for her age. Examina- tion revealed pale doughy, yellowish-colored skin on the face with atrophic varioliform scars on bilateral cheeks, chest, arms and legs, over a background of post inflamma- tory hyperpigmentation. There were skin-colored smooth waxy-appearing closely aggregated papules (1x2 mm) over buttocks and gluteal cleft and beaded papules along the eyelid margin (moniliform blepharosis) bilaterally. Dome- shaped erythematous papules were also noted over the tongue and labial mucosa (Figure 1). On interrogation with the child, we noted a shallow, hoarse voice which was present since infancy according to the mother. However, her language and communication skills were intact. Laryn- goscopy revealed hypertrophic true and false vocal cords with thickening of inter-arytenoid area, though there were no deposits noted (Figure 2, A and B). There was no history suggestive of neuropsychiatric involvement. There was no family history of similar complains. No cranial calcifica- tion was noted in radiology of skull. Histology from the 2 Research Letter | Dermatol Pract Concept. 2025;15(1):4832 waxy papules on buttocks showed confluent homogenous eosinophilic deposits within the papillary and upper retic- ular dermis with slit-like spaces, a few blood vessels and fibroblast. Rest of the dermis was unremarkable (Figure 2, C and D). The deposits stained positively with periodic acid-Schiff stain. A diagnosis of lipoid proteinosis was made based on clinical and histological findings. Conclusions Lipoid proteinosis is a rare genetic disorder caused by muta- tion in extracellular matrix – 1 (ECM-1) gene characterised by hyaline-like deposition in various tissues including lar- ynx, skin, eyelids and other internal organs [1]. The disease course is chronic and fluctuating, with gradual progression Figure 1. Skin and mucosal manifestations. (A) Beaded papules along the eyelid margin (moniliform bleph- arosis). (B) Dome-shaped erythematous papules over labial mucosa. (C) Small ill-defined erythematous pap- ules over dorsum of tongue. (D,E) Doughy pale skin on face along with atrophic varioliform scars on left cheek. (F-H) Smooth waxy, closely aggregated papules over buttocks and gluteal cleft on a background of atrophic varioliform scarring and post inflammatory pigmentation (PIH). Atrophic scars and PIH is also noted over bilateral shins and abdomen. Figure 2. (A) Fibro-optic laryngoscopy showing hypertrophic false (marked as *) and true vocal cords (marked as **). (B) Thickening of inter-arytenoid area (marked as ***). (C) Histopathology from skin biopsy showing confluent homogenous eosinophilic deposits within the papillary and upper reticular dermis with slit-like spaces at 100x magnification (H&E). (D) Histopathology showing Periodic acid-Schiff positive deposits in the upper dermis (100x). Research Letter | Dermatol Pract Concept. 2025;15(1):4832 3 References 1. Shah JS, Shah HA. Lipoid proteinosis: Review of Indian cases. J Oral Maxillofac Pathol. 2022;26(2):236-41. DOI: 10.4103/ jomfp.jomfp_249_21. PMID: 35968171; PMCID: PMC9364649. 2. Loos E, Kerkhofs L, Laureyns G. Lipoid Proteinosis: A Rare Cause of Hoarseness. J Voice. 2019;33(2):155-158. DOI:10.1016 /j.jvoice.2017.05.024 3. Jahanimoghadam F, Hasheminejad J. Oral Manifestations and Dental Management Considerations of Lipoid Proteinosis: A Case Report and Review of Literature.  J Dent (Shiraz). 2022;23(3): 321-326. DOI:10.30476/DENTJODS.2021.89748.1435 4. Vahidnezhad H, Youssefian L, Uitto J. Lipoid Proteinosis. In: Adam MP, Feldman J, Mirzaa GM, et al., eds. GeneReviews®. Seattle (WA): University of Washington, Seattle; January 21, 2016. 5. Savage MM, Crockett DM, McCabe BF. Lipoid proteinosis of the larynx: a cause of voice change in the infant and young child. Int J Pediatr Otorhinolaryngol. 1988;15(1):33-38. DOI:10.1016 /0165-5876(88)90048-1 6. Siebert M, Markowitsch HJ, Bartel P. Amygdala, affect and cogni- tion: evidence from 10 patients with Urbach-Wiethe disease. Brain. 2003;126(Pt 12):2627-2637. DOI:10.1093/brain/awg271 until adulthood. LP occurs worldwide with no definitive age, sex, or race predilections [3]. Dermatological manifes- tations are consistently noted in the form of vesicles and hemorrhagic crusts healing with atrophic pox-like scars. Later, with increasing hyaline deposition in the dermis, the skin becomes diffusely thickened and appears waxy with a yellowish discoloration. Papules, nodules, and plaques ap- pear on the face and lips. Verrucous and keratotic cutane- ous lesions have been noted on extensor surfaces like elbows and knees. The classical and most characteristic sign is the beaded eyelid papules (moniliform blepharosis) [4]. The first manifestation, however, is a weak cry or hoarse voice (due to infiltration and deposition of hyaline-like material in the vo- cal cords) appearing during early infancy. Hoarse voice usu- ally persists lifelong and can lead to complete aphonia [5]. Central nervous system manifestations  commonly include epilepsy and behavioral manifestations. Calcification of the temporal lobes or hippocampi have also been reported [6]. None of these manifestations were noted in our patient.