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Papillon-Lefevre syndrome (PLS) manifests as an autosomal recessive disorder caused by a mutation in the cathepsin C (CTSC) gene. This genetic alteration results in palmoplantar hyperkeratosis, rapid onset of periodontitis, and premature shedding of both primary and permanent teeth. The major etiological factor responsible for the development of this disorder appears to be variations in the CTSC gene, which is responsible for the production of the cathepsin C enzyme in the body. The multifactorial aetiology of the syndrome is influenced by immunologic, genetic, or microbial factors. This case report presents a clinical picture of a 21-year-old Indian male patient with oligodontia and mobile teeth accompanied by palmoplantar keratosis and a history of recurrent infection. The detailed family history of the patient revealed genetic relevance with PLS. This article will discuss in detail the diagnosis, evaluation and treatment modalities involved in the management of the case.

Onychomycosis can present with various manifestations such as subungual hyperkeratosis, onycholysis, and nail plate destruction. Here we present a case of a 61-year-old African male with a known case of type 2 diabetes mellitus on insulin. He worked as a mechanic and presented with nail changes that started four months prior to presentation and worsened over time, mainly affecting the fingernails of bilateral hands. On examination, there was yellowish to greenish discoloration with very extensive hyperkeratosis of skin around the fingers and nails that caused avulsion of nails. Swab and culture showed Candida albicans +3. Nail and skin biopsy showed bacterial colony with fungal hypha. The patient showed marked improvement after receiving oral fluconazole 300 mg weekly for three months.

Granular parakeratosis (GP) is a unique keratotic disorder that often affects the intertriginous areas. GP usually presents as erythematous or brownish hyperkeratotic papules or plaques and can be further classified into five types. GP of the eccrine ostium is a rare subtype; its pathological defects are mainly localized to the stratum corneum of the eccrine ostia. Due to its rarity, there is usually a delay in diagnosing GP, and these patients are often misdiagnosed with other dermatological conditions. In this report, we present the case of a 64-year-old Thai female who presented with recurrent pruritic erythematous rashes on her neck since approximately 40 years. She was previously diagnosed with eczema or folliculitis. Histopathological examination confirmed a final diagnosis of GP of the eccrine ostium. She was advised to avoid excessive heat and keep her intertriginous areas dry. Her condition improved significantly during the follow-up visit.

Familial dyskeratotic comedones (FDC) is an autosomal dominant inherited skin disorder characterized by generalized multiple discrete comedone-like hyperkeratotic papules. The disease demonstrates a distinct histopathologic feature of dyskeratosis of the crater-like invaginated epidermis or follicle-like structures with or without acantholysis. Despite its asymptomatic and benign course, the condition is refractory to treatment. Herein, we report a case of a 54-year-old female presenting with progressively developed generalized multiple hyperkeratotic papules with central keratin plugs on the trunk and extremities for 20 years. A definite diagnosis was made by clinical manifestations and histopathological examination. The lesions were slightly improved after 3 months of topical retinoids and urea cream treatments. Besides, we first describe dermoscopic findings of FDC and reviewed 21 previously reported FDC cases from 11 families in the literature.

Diffuse esophageal hyperkeratosis (DEH) is a very intriguing and impressive mucosal finding that is quite easily identified on endoscopy and histology. A distinction must be made between microscopic/focal hyperkeratosis and endoscopically visible DEH. Microscopic hyperkeratosis is not uncommon in histological studies, while diffuse hyperkeratosis is seen very rarely. Over the past century, only a handful of cases have been reported. The endoscopic appearance of hyperkeratosis is of thick, white, piled-up mucosa. On histology, there is a prominent thickening of the stratum corneum, the squamous cells are anuclear, and there is no hyperplasia of the squamous epithelium. These histological characteristics distinguish benign orthokeratotic hyperkeratosis from other premalignant entities such as parakeratosis or leukoplakia where hyperplastic squamous cells retain pyknotic nuclei, lack keratohyalin granules, and also lack complete keratinization in superficial epithelial cells. The clinical presentation of hyperkeratosis includes gastroesophageal reflux, hiatal hernia, and associated symptoms. Our case highlights a very rare endoscopic finding associated with a common clinical presentation. The nearly 10-year follow-up reinforces the benign nature of ortho-hyperkeratosis and our report underscores the features that distinguish DEH from premalignant conditions. It merits additional research into factors that lead to hyperkeratinization of the esophageal mucosa as opposed to the more common columnar metaplasia. The concomitant presence of Barrett\'s esophagus in some patients is even more intriguing. Animal models with variable pH and content of the refluxate may shed light on the role played by duodenogastric/non-acid reflux in this condition. Larger, prospective, multicenter studies may provide the answers.

BACKGROUND: Nevus comedonicus (NC) is a rare cutaneous disorder thought to be caused by hamartomatous pilosebaceous tissue proliferation that was first described in 1895. Clinically NC appears as a group of elevated follicular openings often linearly arrayed, giving the appearance of comedones. NC usually manifests at birth but can also present later during adolescence and rarely in adulthood.
METHODS: A 21-year-old medically healthy single male presented with right-sided chest black papules in comedo distribution with areas of superficial ulcerations and suppurations in periareolar distribution since the age of 16. Histopathological examination showed dilated follicular ostia filled with keratin plug, devoid of the hair shaft, and lined by stratified squamous epithelium with compact hyperkeratosis, focal parakeratosis, and patchy atrophy and acanthosis.
UNASSIGNED: Nevus comedonicus often responds effectively to conservative treatment, however some cases need surgery intervention. The patient failed conservative medical and topical treatment, and he was treated by surgical-wide local excision and primary closure of the affected skin with free nipple grafting.
CONCLUSIONS: Nevus comedonicus (NC) is a rare cutaneous pathology secondary to pilosebaceous apparatus developmental defect that usually manifests at birth and can affect any area of skin; they typically manifest as black papules in comedo distribution. They can present as an isolated cutaneous pathology or as a component of nevus comedonicus syndrome. Different therapeutic approaches were described, including topical retinoids, keratolytic agents, oral retinoids, antibiotic therapy, manual extraction of comedos, dermabrasion, and surgical resection of the lesion.

White sponge nevus (WSN) is an uncommon, benign, autosomal dominant disorder that usually appears at birth or in early childhood. It affects males and females equally and is caused by germ line mutations of the keratin genes leading to keratin instability and tonofilament aggregation. The condition causes painless, white, thickened, corrugated plaques to form on the oral mucosa, especially bilaterally on the buccal mucosa. Extra-orally, it occurs most often in the vaginal mucosa, as well as in the nasal and esophageal mucosa. In this report, we describe the case of a healthy 32-year-old Saudi male in Jizan in southern Saudi Arabia whose general dentist referred him to the oral medicine clinic at King Abdulaziz University Hospital, where he was diagnosed with white sponge nevus. The patient reported no medical problems and was a cigarette smoker for more than 10 years. An oral examination revealed white lesions affecting the buccal mucosa bilaterally and the labial mucosa. A biopsy of the buccal mucosa confirmed the diagnosis of white sponge nevus. Laser therapy was suggested for the aesthetic treatment of the lesions. Better awareness of this hereditary condition among dental professionals can help improve timely diagnoses early in life and thus avoid unnecessary or inadequate treatment for this benign condition.

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UNASSIGNED: Hyperkeratosis of the nipple and areola (HNA) is a rare skin disease with unknown etiology. Some patients are misdiagnosed or never diagnosed, especially during the early stage of this disease. In addition, the mechanism involved in the development of HNA is still unknown, and genomic alterations have not been reported anywhere.
UNASSIGNED: A 26-year-old female suffered gradual bilateral areola thickening and enlargement, with accompanying intense itching, and was diagnosed with HNA at the First Affiliated Hospital of Chongqing Medical University. No obvious abnormalities were found in laboratory test examinations such as hormone testing for estrogen, progesterone, or prolactin. Typical papillomatous skin with orthokeratotic hyperkeratosis and numerous infiltrating lymphocytes was detected through a histopathological examination. The results from RNA-sequencing showed that the molecular expression between HNA and a normal nipple and areola (NNA) was obviously different. No significant difference was found in the bilateral lesions. In addition, immune-related cell signaling pathways were overactivated in HNA compared to the control HNA.
UNASSIGNED: The typical symptoms, clinical features, and histopathological alterations presented in this case lead to a profound understanding of HNA, which can avoid the misdiagnosis and missed diagnosis of this disease at an early stage. The dysfunction of the local immune system, which was demonstrated by pathological examination and genomic analysis, suggests that anti-autoimmune therapy, such as steroid medication, may be an effective treatment for HNA at an early stage.