Genodermatoses

Genodermatoses

Question. Write in detail on genodermatosis.

genodermatoses

Answer. Genodermatoses are genetically determined skin conditions.

• Some of the genodermatoses are characterized particularly by alterations in the normal keratinization process and are known as genokeratosis.

The following are the genodermatoses:

• Darier’s disease
• White sponge nevus
• Hereditary benign intraepithelial dyskeratosis
• PeutzJeghers syndrome
• Pachyonychia congenita
• Pseudoxanthoma elasticum
• Porokeratosis
• Warty dyskeratoma.

“Understanding the role of genetics in genodermatoses: Q&A explained”

Darier’s Disease Of Genodermatoses

It is also known as keratosis follicularis.

Clinical Features Of Genodermatoses

• It occurs during childhood or in adults.
• Initially, there is a presence of papules over the skin, which is red in color later on they become purple brown or gray in color.
• Changes in nails are also seen, such as splintering, longitudinal streaking, and fissuring.
• White papule occurs in oral cavity over hard and soft palate, tongue and gingiva. It is rough on palpation.

“Importance of studying genodermatoses for better diagnostic outcomes: Questions explained”

Histopathology Of Genodermatoses

• Histopathology reveals hyperkeratosis, papillomatosisis,acantho, sis and benign dyskeratosis.
• Benign dyskeratosis shows typical cells, i.e., corps ronds and grains
• Corps ronds: These cells are larger than normal squamous cells and have rounded, homogeneous basophilic nuclei with dark, eosinophilic cytoplasm and a distinct cell membrane. They are seen in the granular layer and the superficial spinous cell layer.
• Grains: Small, elongated, parakeratotic cells present in the keratin layer.

“Common challenges in diagnosing genodermatoses effectively: FAQs provided”

White Sponge Nevus Of Genodermatoses

It is also known as Cannon’s disease.

Clinical Features Of Genodermatoses

• It occurs most commonly at birth, and its intensity increases till puberty.
• It is seen on buccal mucosa, gingiva and palate.
• It appears as a thick, corrugated, soft-textured, white opalescent line.
• A white or keratotic area could be removed by rubbing, and normal-looking epithelium is seen.

Histopathology Of Genodermatoses

• Histopathologically epithelium shows hyperparakeratosis and acanthosis.
• Cells of the spinous layer show intracellular edema.
• Parakeratin plugging is seen, which projects deep into the spinous cell layer.

Hereditary Benign Intraepithelial Dyskeratosis

• It is also known as Witkop-Von Sallmann syndrome.

“Factors influencing success with genodermatoses treatment: Q&A”

Clinical Features

• It occurs commonly in children.
• Most commonly it involves eyes. In oral cavity it is seen in flor of mouth, buccal mucosa, tongue and palate.
• It appears as a spongy, white macerated area.

Histopathology

Histologically thick epithelium is seen with hydropic degeneration.
Dyskeratotic cells are seen, i.e., round, eosinophilic, waxy appearing cells are seen.

Peutz-Jeghers Syndrome

It is also known as hereditary intestinal polyposis syndrome.

Features

In I, there is pigmentation of the face and oral cavity.

Adenocarcinoma can occur in gastric, the duodenum, and the colon.

Histopathology

Histologically, acanthosis ofthe epithelium is seen with elongation of rete ridges.

“Steps to explain causes of genodermatoses: Genetic mutations vs inheritance patterns: Q&A guide”

Pachyonychia Congenita

It is also known as Jadassohn­Lewandowsky syndrome.

Clinical Features

• It occurs in neonates.
• It is seen on nails, palms, hands, and feet.
• There is thickening of nail present, thickening increase toward free border of nail bed and get filled with yellow keratotic debris which leads to the projection of nail upward at free border.
• Hairs are sparse, and corneal dyskeratosis is seen.
• Bullae are seen over the feet.

Histopathology

Histopathology of skin and mucous membrane showing acanthosis, parakeratosis, and hyperkeratosis.

Pseudoxanthoma Elasticum

It leads to the degeneration of elastic fibers and makes them susceptible to calcium.

“Role of autosomal dominant inheritance in causing genodermatoses: Questions answered”

Clinical Features

• It occurs at the age of 13 years.
• Yellow papules are seen over the skin near the neck, mouth, and axilla.
• Skin surrounding the mouth gives a hound dog appearance.
• The lower lip is affected inside the oral cavity.

Porokeratosis

It is also known as Mibelli’s disease.

Clinical Features

• This disease occurs in childhood.
• Male predilection is present.
• It is commonly seen in the face, neck, extremities, and genitalia.
• Lesions appear as crateriform keratotic papules,se which later form elevated plaques.
• Plaque from its margins is surrounded by a raised border of epidermis.
• Nails of the patient get thick and ridged.
• An oral cavity lesion is seen in the upper lip and palate.

“Early warning signs of issues addressed by understanding genodermatoses pathogenesis: Common questions”

Histopathology

• Histologically elevated horny margin of the lesion show hyperkeratosis and acanthosis with deep groove filed with parakeratin and absence of underlying granular layer. This forms cornoid lamella.
• The central portion of the lesion shows epithelial atrophy.

Warty Dyskeratoma

It is also known as isolated Darier’s disease.

Clinical Features

• The disease occurs in older age.
• Male predilection is present.
• Lesions are seen on the scalp, neck, face, and over the upper part of the chest.
• The lesionpresents ass an elevated nodule that is umbilicated.
• Borders ofthe lesion are raised.
• The color of the lesion is not specific ,and it varies from brown or yellow to black or grey.
• Oral lesion occurs very rarely, and if present, they can be seen as a whitish area with a central depression over it.

“Asymptomatic vs symptomatic effects of ignoring genodermatoses causes: Q&A”

Histopathology

• Histopathologically intra­oral lesions show central orthokeratin or parakeratin core below which epithelium show suprabasilar separation which result in cleft like space having acantholytic and dyskeratotic cells.
• Connective tissue papillae have a single layer of basal cells.
• Underlying connective tissue shows a non-specific chronic inflammatory infiltrate.