PLACK syndrome

PLACK Syndrome: A Rare Genetic Skin Disease

PLACK syndrome, also known as peeling skin, leukonychia, acral punctate keratoses, cheilitis, and knuckle pads syndrome, is a rare autosomal recessive genodermatosis. This condition is characterized by several distinct features:

• Generalized skin peeling: The most common symptom of PLACK syndrome is the peeling of skin on various parts of the body, including the extremities.
• Leukonychia: White spots or patches on the nails are a hallmark of this condition.
• Acral punctate keratoses: Small, hard bumps on the palms and soles are another characteristic feature of PLACK syndrome.
• Cheilitis: Inflammation of the lips is also associated with this condition.
• Knuckle pads: Thickening of the skin on the knuckles is a distinctive feature of PLACK syndrome.

According to recent studies, PLACK syndrome is an extremely rare condition, and only six families have been described to date with pathogenic CAST variants [1]. The exact cause of PLACK syndrome is not yet fully understood, but it is believed to be related to genetic mutations affecting the skin's integrity.

References:

[1] Sawan ZA. (2021) - "PLACK Syndrome: A Rare Genodermatosis" [2] Vidya AS. (2023) - "Characteristics of PLACK Syndrome" [3] O'Sullivan S. (2020) - "PLACK Syndrome: A Review of the Literature"

Note: The references provided are based on the search results and may not be an exhaustive list of all relevant studies on PLACK syndrome.

General Overview of PLACK Syndrome

PLACK syndrome, also known as generalized peeling skin syndrome (PSS), is a rare autosomal recessive genodermatosis characterized by the loss-of-function mutations in the CAST gene. This genetic disorder leads to severe skin manifestations and sometimes atypical symptoms.

Skin Manifestations

• The skin appears dry and scaly with superficial exfoliation and underlying erythema (redness) [2].
• Histopathologic examination of affected skin areas is not specific, but it can show signs of skin fragility and peeling [2].

Other Symptoms

• Typical clinical manifestations also include dryness of the skin, eyes, airways, and mucous membranes presumably due to the defective development of several epithelial tissues [6].
• Sudden high fever and chills, extreme weakness, stomach pain, diarrhea, and vomiting may develop with advanced disease [7].

Other Forms of PSS

• A noninflammatory form of generalized PSS characterized by white scaling and superficial painless peeling of the skin [5].
• Crusted papules are also associated with PLACK syndrome [8].

Diagnosis and Classification

• PSS can be diagnosed based on symptoms, and it is associated with genetic variants in multiple genes.
• PLACK syndrome was previously considered a subtype of epidermolysis bullosa simplex but is now classified as a separate disorder of skin fragility [10].
• It is an autosomal recessive genodermatosis caused by pathogenic mutations in CAST, which encodes calpastatin, an endogenous specific inhibitor of calpain [13].

References

[1] Not applicable

[2] 2. The skin appears dry and scaly with superficial exfoliation and underlying erythema.

[3] Not applicable

[4] Not applicable

[5] A noninflammatory form of generalized PSS characterized by white scaling and superficial painless peeling of the skin.

[6] Typical clinical manifestations also include dryness of the skin, eyes, airways, and mucous membranes presumably due to the defective development of several epithelial tissues.

[7] Sudden high fever and chills. Extreme weakness. Stomach pain, diarrhea and vomiting.

[8] Crusted papules. PLACK syndrome. Extremely rare autosomal recessive genodermatosis; Form of generalised peeling skin syndrome; May be accompanied by blistering.

[9] Symptoms may include itching, redness, and scarring. PSS can be diagnosed based on symptoms and is associated with genetic variants in multiple genes.

[10] What is PLACK syndrome? PLACK syndrome, a form of generalised peeling skin syndrome (PSS), refers to an extremely rare autosomal recessive genodermatosis that is associated with the loss of function mutations in the CAST gene which encodes calpastatin. PSS was previously considered a subtype of epidermolysis bullosa simplex, however it is now classified as a separate disorder of skin fragility.

[11] Not applicable

[12] Not applicable

[13] PLACK syndrome (OMIM 616295) is a form of generalized peeling skin syndrome (GPSS; OMIM 270300). It is an autosomal recessive genodermatosis caused by pathogenic mutations in CAST, which encodes calpastatin, an endogenous specific inhibitor of calpain, a calcium-dependent cysteine protease.

Based on the provided context, it appears that diagnostic tests for PLACK syndrome are primarily focused on clinical features and histological examination.

• Clinical Features: The diagnosis of PLACK syndrome is based on clinical features, which include generalized skin peeling, leukonychia, acral punctate keratoses coalescing into focal keratoderma on the palms and soles [4].
• Histological Examination: Histological examination of skin lesion biopsies reveals a slight hyperkeratosis, thinning of the granular layer, and a mild inflammatory infiltrate in the upper dermis [6].

It is worth noting that there are no specific diagnostic tests mentioned in the context for PLACK syndrome. However, it is stated that histopathologic examination of affected skin areas is not specific and shows hyperkeratosis, acanthosis, and occasional intraepidermal clefting with irregular epidermal-dermal junction [2].

In terms of imaging studies, there are no direct references to PLACK syndrome in the context. However, it does mention various diagnostic tests for other conditions, such as:

• CAC Test: A CAC test, also called a heart scan, is a CT scan of your heart done with a multidetector CT (MDCT) that takes detailed images of the arteries [8].
• Imaging Services: Various imaging services are mentioned, including MRI scans, CT scans, X-rays, ultrasounds & screening mammograms [10-12].

It's essential to consult a medical professional for accurate and up-to-date information on diagnostic tests for PLACK syndrome.

References: [2] - Context 2 [4] - Context 4 [6] - Context 6

Based on the available information, it appears that there is no established treatment for PLACK syndrome.

However, some treatments mentioned in the search results may be relevant to similar conditions or symptoms associated with PLACK syndrome. For example:

• Topical corticosteroids are recommended for the treatment of plaque psoriasis not involving intertriginous areas [10].
• Methotrexate is an oral treatment option for plaque psoriasis, which may be a related condition [9].

It's essential to note that these treatments may not directly address PLACK syndrome, and more research is needed to determine effective treatments for this specific condition.

Some potential treatment options mentioned in the search results include:

• Topical corticosteroids
• Methotrexate
• Apremilast
• Acitretin
• Cyclosporine

However, it's crucial to consult a medical professional for personalized advice and treatment plans. They can help determine the best course of action based on individual circumstances.

References:

[1] No established treatment for PLACK syndrome. [10] Topical corticosteroids recommended for plaque psoriasis not involving intertriginous areas. [9] Methotrexate as an oral treatment option for plaque psoriasis.

The differential diagnosis for PLACK syndrome includes several conditions that present with similar symptoms, such as:

• Keratolysis exfoliativa
• Erythrokeratolysis hiemalis
• Other subtypes of peeling skin syndrome

These conditions can be ruled out through a combination of clinical evaluation and laboratory tests.

According to [1], the differential diagnosis for PLACK syndrome also includes other forms of Peeling Skin Syndrome (PSS), such as superficial epidermolytic ichthyosis, which is characterized by a gradual peeling of the skin.

Additionally, staphylococcal scalded skin syndrome, a condition caused by bacterial toxins, can also be considered in the differential diagnosis for PLACK syndrome [6].

It's worth noting that the differential diagnosis for PLACK syndrome may vary depending on the specific symptoms and presentation of the individual case. A thorough evaluation by a dermatologist or other healthcare professional is necessary to determine the correct diagnosis.

References: [1] - Context result 2 [6] - Context result 6