A Child with Pock-like Scars Since Early Age (Questions)

A 6-year-old male child, born out of nonconsanguineous marriage, presented with mildly pruritic, pock-like scars on the face, extremities, and trunk, present for the last 4 years, along with small, white colored, grain-like lesions on both the eyelid margins for the past 2 years. There was a preceding history of recurrent eruptions of fluid-filled lesions which ruptured forming crusts, leading to the formation of scars. Lesions over both the eyelid margins gradually increased in number and size over time. Parents also noticed hoarseness of voice along with feeble cry since infancy. Birth and developmental history were within normal limits. There was no history of seizures, difficulty in swallowing, breathing, photosensitivity, visual disturbances, or psychological disturbances, with a mental understanding similar to peers as per parents. Family members were unaffected. The child was otherwise stable, with no pallor, icterus, clubbing, edema, or lymphadenopathy. On dermatological examination, multiple, well-defined, hyperpigmented and hypopigmented, circular to oval, atrophic, pock-like (varioliform) scars, of varying sizes were present over the face [Image 1], trunk, and bilateral upper and lower extremities. Multiple crusted papules and erosions were also present over the trunk, shoulders, elbows, and left forearm. There was hyperkeratosis over bilateral knuckles and crusted lesions over the dorsum of the left hand [Image 2]. Multiple firm, whitish, shiny knobby papules (moniliform papules), of size 1–2 mm, linearly arranged over both the upper and lower eyelid margins were seen [Image 3]. The lower lip appeared to be thickened [Image 4a] there was diffuse thickening of the tongue (woody induration) with characteristic indentations along the margin [Image 4b] and restricted protrusion due to short and thick frenulum. Skin biopsy from a crusted papule revealed a hyperkeratotic epidermis with mild papillomatosis, mild spongiosis, and hypergranulosis with dermis showing mild superficial perivascular lymphocytic infiltrate and deposition of pink, hyaline periodic Acid-Schiff positive material around the blood vessels [Image 5]. An otolaryngology reference was done, where indirect laryngoscopy showed thickening of the vocal cords. Topical emollients and antibiotics were given for skin lesions. The patient is on regular follow-up with an otolaryngologist for airway assessment. Questions:Image 1: Multiple, well-defined, hyperpigmented and hypopigmented, circular to oval, atrophic, pock-like scars, of varying sizes present over faceImage 2: Hyperkeratosis over bilateral knuckles and crusted lesions over dorsum of left handImage 3: Multiple firm, whitish, shiny knobby papules, of size 1-2 mm, linearly arranged over both the upper and lower eyelid marginsImage 4: (a) Diffuse thickening of lower lip, (b) Diffuse thickening and indentations along the lateral margin of tongue with restricted protrusionImage 5: Histopathology showing deposition of pink, hyaline Periodic Acid Schiff positive material in the dermisQuestion 1: What is the diagnosis of the given case scenario? Give the other name for the same. Question 2: What is the usual mode of inheritance and genetic mutation responsible for the given condition? Question 3: What are the extracutaneous manifestations of this disease?Answers to the questions may be mailed by readers at ipcares. [email protected] The answers of the questions along with the name and affiliation of the sender of the first correct response will be published in the subsequent issue of IPCaRes, in the section of the Clinical Quiz (Answers) in the subsequent issue of IPCaRes.Declaration of patient consent The authors certify that they have obtained all appropriate patient consent forms. In the form, the legal guardian has given his consent for images and other clinical information to be reported in the journal. The guardian understands that his name and initials will not be published and due efforts will be made to conceal patient identity, but anonymity cannot be guaranteed. Financial support and sponsorship Nil. Conflicts of interest There are no conflicts of interest.