Papillon-Lefèvre syndrome (PLS) is a rare genetic condition that affects children between the ages of one and five. It is inherited in an autosomal recessive manner. It results from alterations of the CTSC gene; which regulates the production of cathepsin C enzyme. PLS is characterized by the appearance of hyperkeratotic patches on the palms and soles, as well as severe inflammation and deterioration of the structures that surround and support the teeth (periodontium). 

Clinical Presentation: 

Oral features: 

Severe gingivostomatitis and periodontitis are the most common symptoms of PLS. In patients suffering from PLS, deciduous teeth erupt in the expected order, with normal structure and shape, at the appropriate ages. However, gingiva becomes inflamed during the first year after the eruption of deciduous teeth, followed by fast periodontal deterioration evidenced by visible reddish and swollen gingiva, severe bone resorption, and deep periodontal pockets out of which pus exudates in response to minimal pressure. Due of the hypermobility of the teeth, mastication is quite uncomfortable in those patients. A foul smelling mouth odor is usually present. Around the age of 4-5 years, the child’s deciduous teeth fall out prematurely, and the child becomes entirely edentulous, with gingiva returning to its normal status. Nevertheless, with the eruption of permanent or successor teeth, periodontitis occur again. By early adolescence, the majority of the successor teeth will fall out.

Cutaneous features: 

PLS is marked by the appearance of dry, scaly patches of skin (hyperkeratosis) in children between the ages of one and five; it is manifested simultaneously with oral manifestations. These patches most commonly affect the palmar aspect of the hands and the plantar aspect of the feet –although they can also affect the knees and elbows. The skin of those who are affected can be abnormally red and thick, but it can also vary in texture and color. Skin lesions may worsen in cold weather, making walking extremely difficult. 

Management: 

A multidisciplinary approach involving a team of a dermatologist, a pediatrician and a dentist is crucial for patients with PLS. Moreover, emollients and salicylic acid are used to treat the cutaneous manifestations of PLS; topical steroids may be used to enhance their effectiveness. Oral retinoids including acitretin, etretinate, and isotretinoin have been shown to help with both oral and cutaneous PLS lesions.

Written by: Rema Aldihan, Medical Student.

References: 

rarediseases.org

www.ncbi.nlm.nih.gov/pmc/articles/PMC4507741/

Hemangioma is the most common benign vascular tumor of infancy. It is more common among baby girls than boys (3:1). Low birth-weight, advanced maternal age, multiple pregnancy (twins and triplets), placenta previa and preeclampsia are all risk factors for developing infantile hemangioma. It is believed that the expression of GLUT1 protein in utero is the placental origin for infantile hemangioma. 

Most hemangiomas don’t occur at birth but appear within the first two weeks of life, most commonly on the head and neck area. It usually starts off as a red spot resembling a scratch, but instead of fading away, it gradually grows. Most infantile hemangiomas grow very rapidly in the first 3 months, they tend to have a growth arrest by 5 months of age, and recede over the next couple of years.  Hemangiomas could be superficial or deep; superficial hemangioma appear bright red, while deep hemangioma appear bluish-purple in color. The majority of hemangiomas are focal, but could occasionally present as segmental or multifocal. 

Hemangioma could arise on its own or as a part of PHACES Syndrome, which was first described by Dr. Ilona Freidan in 1996. It is a syndrome that includes infantile haemangiomas and malformation of eyes, heart, arteries and brain. The acronym PHACES stands for: Posterior fossa abnormalities, Hemangioma, Arterial abnormalities, Cardiac abnormalities, Eye and Endocrine abnormalities and Sternal clefts. 

Segmental haemangioma is more likely to be associated with PHACES syndrome when compared to focal haemangiomas. Moreover, the specific site of the segment affected by hemangioma can indicate the likely problem associated with it. For example, frontotemporal segments are associated with brain malformations, and mandibular segments are associated with cardiac anomalies and airway hemangiomas. 

Infants with hemangiomas larger than 24 cm on the face or scalp should undergo investigations to screen them for PHACES syndrome. Investigations include MRI, MRA, CTA, Eye examinations, ear examinations, audiometric testing, echocardiogram and U/S for blood vessels. 

The management of PHACES syndrome is tailored to each child depending on the involved organs. Careful evaluation of major blood vessels in the brain and heart should be undertaken prior to initiating propranolol. 

Written by: Rema Aldihan, medical student.

References:

https://www.ccakids.org/assets/syndromebk_hemangiomas.pdf

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.

	Subtype	Location	Symptoms	Picture
Plaque	Plaque	Trunk and proximal Extremities	Erythematous to violaceous patches
	Guttate	Upper half of trunk	Multiple small chalk White Flat
	Atrophoderma of pasini and pierini	Trunk Upper arms	Large (20cm) Brownish-gray hyperpigmented oval atrophic well demarcated plaques Sharp sloping border
	Deep	Involving subcutaneous tissue
	Nodular/ Keloidal		Hyperpigmented sclerotic nodules that mimic keloids
Linear	En coupe de sabre	Frontal, frontoparietal, parasaggital forehead or scalp	Indented appearance
	Parry- Romberg syndrome		Unilateral atrophy of faceà epilepsy, trigeminal neuralgia, and cerebral atrophy
Generalized		Entire trunk and extremities	Widespread indurated plaquesà muscle atrophy and difficulty breathing

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.