The most prevalent of the ichthyoses is ichthyosis vulgaris, a heterogeneous collection of inherited keratinization disorders characterized by extensive scaling of the skin of different severity. Pathogenic mutations in the filaggrin gene (FLG), which encodes profilaggrin, a key component of the keratohyalin granules in the epidermis’ granular layer, cause IV. Individuals who inherit a single mutant allele are substantially less seriously impacted than those who acquire homozygous or compound heterozygous mutations, indicating that the IV inheritance pattern is semidominant.

Clinical presentation:
The condition appears as widespread, dry skin with thin, white or gray scales on the extensor extremities and trunk in infancy or early childhood. Associated characteristics include hyperlinear palms and keratosis pilaris. Extensor extremities and the trunk are usually afflicted, with intertriginous (e.g., axillary, antecubital, and popliteal) skin remaining unaffected. It’s unusual for the sides of the neck to be involved. Scaling has a range of severity. Individuals who have only one mutant allele (heterozygotes) have a modest phenotype that can be mistaken for simple dry skin, whereas individuals who have mutations in both alleles (homozygous or compound heterozygotes) have a more obvious condition. The severity of the condition varies dramatically by season, improving in warm and bright weather with high ambient humidity and deteriorating in dry and cold conditions.

Diagnosis:
The clinical diagnosis of ichthyosis vulgaris (IV) is based on the patient’s personal and family history, as well as clinical findings on physical examination. Although individuals with homozygote or compound heterozygote variations of the filaggrin gene (FLG) who have a more severe phenotype may find it easier to diagnose, heterozygotes, who normally have a very mild symptom, may find it more difficult.

The following clinical signs and symptoms point to an IV diagnosis:

• Scale: Fine, white or gray, central attachment; extensor surface of extremities and trunk involved; folds spared.
• Palmar hyperlinearity: Major fissures are exaggerated, minor fissures are increased, and lines on the thenar eminence are accentuated.
• Keratosis pilaris.

The following are examples of personal and family history that support the diagnosis of IV:

• Symptoms appear shortly after birth, and are most common in early childhood.
• Warm weather and emollients make a difference.
• With age, there may be an improvement.
• Atopic eczema or other atopic illnesses are linked.
• Occurrence in the family

A skin sample with hematoxylin and eosin staining that shows a marked decrease or absence of the granular layer in the epidermis can assist confirm the diagnosis of IV. Biopsies are best performed on the extensor side of the arm or the shin. Electron microscopy can confirm keratohyalin granule abnormalities, despite the fact that it is rarely utilized for routine skin diagnosis.

Genetic testing – Although not regularly done in clinical practice, genetic testing demonstrating pathogenic mutations in the FLG gene offers the definite diagnosis of IV. Although variants differ within populations, and identification of “private” variants is difficult and may be overlooked unless Sanger sequencing or an equivalently comprehensive examination of the complete gene is performed, common population relationships may be beneficial for screening.

Treatment:
The goal of ichthyosis vulgaris (IV) treatment is to remove scales, reduce skin dryness, and improve the appearance of the skin. It entails regular bathing and the use of moisturizers and keratolytics.

1- Bathing – People with dry skin, especially those with IV, are frequently advised to take long baths to help remove scale. Although only a few studies back it up, this advice is basic sense and has lasted the test of time. The value of bath additives such as oils and sodium bicarbonate is debatable. After bathing, moisturizers should be applied, whether or not soaps or synthetic detergents were used.

2- Emollients and moisturizers — The mainstay of IV treatment is frequent and generous application of emollients and moisturizers. Moisturizers keep the skin hydrated and smooth. Humectants like glycerin, occlusives like petrolatum, emollients like cetyl alcohol, keratolytics like urea and alpha-hydroxy acids, and other ingredients are included. Occlusives, which are water insoluble but have a lower molecular weight than occlusives, prevent water loss; emollients, which are water insoluble but have a lower molecular weight than occlusives, smooth the skin; and keratolytics help remove scale.

3- In the therapy of IV, topical retinoids, steroids, calcipotriene, and systemic retinoids are not recommended. The treatment of atopic dermatitis is covered in another article.

Prognosis:
Individuals with ichthyosis vulgaris (IV) live normal lives with no known shortening of life expectancy, but they must cope with the daily treatment of scaling skin disease, which is frequently associated with moderate to severe atopic dermatitis. In the ichthyoses, quality-of-life studies have focused on the more severe conditions, but none have addressed IV.

The majority of people with ichthyosis want to learn more about their condition and how to best treat it. They usually have a better understanding of what works for their skin once they have this information, and they rarely seek medical help until they have a problem. This is especially true in IV, where eczema causes the most therapeutic problems and consequences.

Written by: Lama Altamimi, Medical intern.

Reference:

UptToDate

 

 

 

Rosacea is a skin disease that causes erythema to form across the nose and cheeks. In addition to medical therapy, rosacea patients can improve their remission by identifying and avoiding common environmental factors that may trigger flare-ups or aggravate their conditions. Below are the lists on how to prevent the rosacea to flare-ups:

 sun protection:

sun exposure is the most common trigger, and should be avoided by applying a broad-spectrum sunscreen with an SPF of 30 or higher. In addition, it is better to use fragrance-free sunscreen containing zinc oxide and titanium dioxide because they are less likely to cause skin irritation. Moreover, wearing a hat when exposed the sun is essential to protect the face and neck. 

 Avoid stress:

Emotional stress accounts for 79% of rosacea flare-ups; try to do activities that relieve your stress, such as yoga classes, and joining support groups. Minimize eating spicy food/ food and beverages that are high in temperature; one can drink iced coffee or tea instead, or let hot beverages warm a bit.

 Review medications:

There are some medications known to trigger rosacea, like antihypertensives and vitamins, that has to be reviewed by the treating physician.

 Reduce Exercising in a hot climate:

Exercising will increase the body temperature, and that will worsen the condition. This can be avoided by doing less intense exercise and doing it indoors.

 Makeup precautions:

Using a mild, fragrance-free emollient to the skin before applying makeup can help prevent flares. Avoiding waterproof makeup or heavy foundations is vital to avoid flare-ups.

Select specific skin and hair care products:

 Protect the face from cold wind

 

Written by: Dr. Nouf Aljomah, dermatology resident

References:

American Academy of dermatology

https://www.nhs.uk/

 

 

Cutaneous squamous cell carcinoma (cSCC) is a malignant skin tumor that arises from the epidermal keratinocytes. They can develop on any cutaneous surface, including the head, neck, trunk, extremities, oral mucosa, periungual skin, and anogenital areas. In individuals with fair-skin, it mainly arises in sun-exposed areas. On the other hand, in individuals with darker skin tones, it primarily develops in non-sun exposed areas, such as the lower legs, anogenital region, and areas of chronic inflammation or scarring. The latter accounts for 20-40% of cSCC in black patients.

More than 90% of cases of SCC are associated with countless DNA mutations in various somatic genes. For example, mutations in the p53 tumor suppressor gene are caused by exposure to ultraviolet radiation (UV), especially UVB (signature 7). Other signature mutations are related to cigarette smoking, aging, immunosuppression.

 

Clinical features:

Cutaneous SCC presents with a wide variety of cutaneous lesions, including papules, plaques, or nodules, that can be smooth, hyperkeratotic, firm/indurated (more with well-differentiated), or ulcerated, fleshy, granulomatous, +/- area of hemorrhage or necrosis (poorly differentiated). Cutaneous SCC in situ (Bowen’s disease) mainly presents as an erythematous, well-demarcated, scaly patch or plaque located in sun-exposed areas. Lesions of invasive cSCC are often asymptomatic but may be painful or pruritic or have local neurologic symptoms (e.g., numbness, stinging, burning, paresthesias, paralysis, or visual changes).

 

Diagnosis: 

SCC is diagnosed based on clinical features and confirmed pathologically by diagnostic biopsy or following excision. Staging investigations may also be carried out in high-risk SCC to determine whether it has spread to lymph nodes or elsewhere.

Cutaneous SCC is catigorized as low-risk or high-risk, depending on the chance of tumor recurrence and metastasis. Characteristics of high-risk SCC are shown in this Figure. Metastatic SCC is found in regional lymph nodes (80%), lungs, liver, brain, bones, and skin.

 

Management:

Cutaneous SCC is almost always treated surgically, and most cases are excised with a 3–10 mm margin of normal tissue around the tumor. Reconstruction using a flap or skin graft may be needed to repair the defect. Other methods of removal include:

• Shave, curettage, and electrocautery: for low-risk tumors on trunk and limbs
• Aggressive cryotherapy: for tiny, thin, low-risk tumors
• Mohs micrographic surgery: for large facial tumors with indistinct margins or recurrent tumors
• Radiotherapy: for an inoperable tumor, patients unsuitable for surgery, or as adjuvant

 

For advanced/or metastatic SCC?

Locally advanced primary, recurrent or metastatic SCC requires multidisciplinary team (MDT) consultation. Usually, a combination of treatments is used, including surgery, radiotherapy, cemiplimab, and experimental targeted therapy using epidermal growth factor receptor (EGFR) inhibitors.

 

Written By: Dr. Iman Nazer,  Dermatology resident.

References:

Uptodate 

Dermnetnz.org

BAD guidelines 

Morphea is an autoimmune connective tissue disorder, which is characterized by the hardening of the skin. It is a relatively uncommon disorder as the annual incidence rate is estimated to be 27 per million; however, the prevalence increases with age. In addition, the disease is more prevalent in females. Although the etiology of morphea is poorly understood, It is thought to be due to several factors, namely genetics such as HLADRB1 ∗ 04:04 and HLA-B37 that increase the susceptibility. Moreover, environmental triggers play a significant role in pathogenesis. All of this will result in T-cell activation, vascular damage, and deposit of fibroblast.

There are three recognized types of the disorder: plaque, linear, and generalized, as shown in the table below.

Morphea is primarily diagnosed clinically, and no further tests are needed to confirm. Blood tests, imaging, and biopsy are used to exclude other diseases. The most prominent biopsy findings of morphea are:

• Overall square punch.
• Epidermal atrophy or loss.
• Dense dermal collagen.
• Lymphocytes and plasma in the subcutaneous layer.

 

Leprosy or “Hansen’s disease” is a contagious disease caused by mycobacterium leprae complex. In 2000, leprosy was eliminated as a cause of public health concern. Yet, cases still occur, especially in resource-limited countries such as India, Nepal, and Bangladesh. The reservoirs of M.leprae are the armadillos and red squirrels. Moreover, the primary mode of transmission is thought to be respiratory droplets. Risk factors include contact with active cases, especially with the lepromatous type of leprosy, exposure to armadillos, immunosuppression, and age.

Leprosy can be classified into a mild tuberculoid form and a more severe lepromatous form, with intermediate stages in-between. Signs include red or hypopigmented skin patches and loss of sensation in the same skin patches. The lepromatous form presents with more generalized symptoms with erythematous skin nodules, thickening of earlobes, and loss of body hair. Complications include painful neuropathy, corneal ulceration, and abrasion. Late diagnosis and incomplete treatment of leprosy are associated with an increased burden of the disease, deformities, and stigma. The diagnosis is based on clinical presentation supported by the presence of acid-fast bacilli on full-thickness skin biopsy from the most active skin lesion. PCR for M. leprae DNA can also be used for diagnosis.

Leprosy is treated with multi-drug therapy (rifampicin, dapsone, and clofazimine). The duration ranges from 6 months for tuberculoid form and 12 months for lepromatous form. Drug resistance has been reported in some countries in which second-line drugs can be used, such as clarithromycin, minocycline, and fluoroquinolones.

Skin lesions usually start to resolve after few months to years if the patient is compliant with the drug regimen. Although rare, leprosy might relapse mostly 5 to 10 years after stopping the treatment. In areas with a high prevalence of leprosy, a single dose of BCG vaccine can give 50 percent protection. For contacts with active cases of leprosy, chemoprophylaxis with single-dose rifampicin can be given for adults and children more than two years.

 

Written by: Dr. Tammam Alanazi, Dermatology resident.

References:
1- WHO Guidelines for the Diagnosis, Treatment, and Prevention of Leprosy
2- UptoDate

 

 

 

Dermatomyositis is a rare disease that causes muscle inflammation and skin rash.

It can occur at any age, but it most often affects adults over the age of 50, the exact cause is not known but is thought to be an autoimmune disorders, with genetic predisposition and environmental factors that might play a role.

 

symptoms are caused by swelling and inflammation in the blood vessels that supply the skin and muscle scan appear suddenly or develop gradually over time most commonly a violet-colored or dusky red rash develops on the face and eyelids(heliotrope rash), knuckles (guttron’s sign), elbows, knees, chest and back(shawl sign). The rash can be itchy and painful.Muscle changes usually develops after the rash ,muscles are stiff and tender which make it difficult to do things like brushing hair ,walking upstairs and lifting legs.

 

Dermatomyositis might cause other conditions including Raynaud’s phenomenonwhen  fingersturn pale when exposed to cold temperature,cardiovascular diseases, lung diseases and increased likelihood of developing cancer.

 

Diagnosis of dermatomyositis is based on person’s medical history and a physical exam, also by ordering blood tests to look for autoantibodies. muscle biopsy, Electromyography, and imaging screening for underlying cancer.

 

There’s no cure for dermatomyositis, but treatment aim is to improveskin rash and muscle strength and functionwith medications like corticosteroid and steroid sparing agents, also general measures including sun protection and regular exercises.

 

 

Written by:

Yasmeen Alanazi, Dermatology resident, King Fahad Medical City.

 

References:

bad.org.uk

dermnetnz.org