isolated anhidrosis with normal sweat glands

Isolated Anhidrosis with Normal Sweat Glands (ANHD)

Isolated anhidrosis with normal sweat glands, also known as ANHD, is a rare genetic skin disease characterized by the absence of perspiration and subsequent heat intolerance. Despite having normally functioning sweat glands, individuals with ANHD are unable to produce sweat in response to heat, exercise, or other stimuli.

Key Features:

• Absence of perspiration (anhidrosis)
• Normal morphology and structure of sweat glands
• Heat intolerance due to impaired eccrine sweat function
• Can be caused by a mutation in the ITPR2 gene

Symptoms:

• Severe heat intolerance
• Absence of sweating in response to heat, exercise, or other stimuli
• May experience heat exhaustion or heat stroke if not properly managed

References:

• [1] Congenital generalized anhidrosis resulting in severe heat intolerance due to functionally impaired eccrine sweat glands.
• [2] Isolated anhidrosis with normal sweat glands (ANHD) is characterized by absence of perspiration and subsequent heat intolerance with normal morphology and structure of sweat glands.
• [3] Isolated anhidrosis with normal sweat glands (ANHD) is a condition characterized by the absence of perspiration and subsequent heat intolerance, despite having normally functioning sweat glands.

Note: The information provided above is based on the search results and context provided.

Based on the provided context, here are the signs and symptoms of isolated anhidrosis with normal sweat glands:

Common symptoms:

• Little or no sweating in specific areas of the body (e.g., face, hands, feet) [10]
• Dizziness [10]
• Flushing [10]
• Muscle cramps [10]
• Overall weakness [10]

Other possible symptoms:

• Feeling hot and not able to cool off [10]
• Dry skin [7]
• Itch or tingling of the skin [9]

It's essential to note that isolated anhidrosis with normal sweat glands can be a symptom of various underlying conditions, such as peripheral alterations in the eccrine gland itself, idiopathic causes, or central or neuropathic disease and/or medication that disrupts neural inputs from the anterior hypothalamus to the gland [11]. If you suspect you have isolated anhidrosis, it's crucial to consult with a healthcare professional for proper diagnosis and treatment.

References:

[10] - Context #10 [7] - Context #7 [9] - Context #9 [11] - Context #11

Based on the available information, it appears that diagnostic tests for isolated anhidrosis (a condition characterized by the absence of sweating) can be challenging when sweat glands appear normal.

• A quantitative sudomotor axon reflex test (QSART) and serum analysis may be useful in diagnosing acquired idiopathic generalized anhidrosis, especially if a diagnosis is suspected [1].
• However, skin biopsy reveals normal morphology and number of sweat glands, which can make it difficult to diagnose isolated anhidrosis with normal sweat glands.
• The diagnostic utility of pharmacologic sweat tests may be time-dependent, limited to a relatively early period following onset of anhidrosis [3].

In such cases, other diagnostic approaches may be considered. For example:

• Thermoregulatory skin test: This involves coating the person's body in a powder that changes color when the skin releases sweat.
• QSART or QDIRT tests can also be used to assess whether anhidrosis is of preganglionic or postganglionic origin [6].

It's worth noting that diagnosis of anhidrosis is based on clinical manifestations such as decreased sweating and heat intolerance, in addition to sweat tests and temperature measurements [8].

Based on the available information, it appears that there is no established effective treatment for isolated hypohidrosis (a condition where a person sweats less than usual). However, some treatments may be considered to address underlying conditions or symptoms.

• Anticholinergic drugs have been used to treat generalized hyperhidrosis, but their effectiveness in treating isolated anhidrosis with normal sweat glands is unclear [9].
• Antihistamines, cyclosporine, and gabapentine have been used to treat acquired idiopathic generalized anhidrosis, but it's not clear if they would be effective for isolated anhidrosis with normal sweat glands [8].
• There is no specific treatment available for anhidrosis, and patients should avoid circumstances that generate undue heat, such as strenuous physical activity in hot environments [4].

It's worth noting that the pathogenesis of isolated hypohidrosis remains largely unknown, which may limit the development of effective treatments [2].

Based on the available information, it appears that differential diagnosis for isolated anhidrosis (complete absence of sweating) with normal sweat glands is a complex process.

According to search result [1], IPSF (Idiopathic Generalized Anhidrosis) is a diagnosis of exclusion, and generalized anhidrosis can be classified into acquired versus congenital. This suggests that the differential diagnosis for isolated anhidrosis would involve ruling out other conditions that may cause anhidrosis, such as:

• Congenital conditions: These are rare genetic disorders that affect the development of sweat glands.
• Acquired conditions: These can be caused by various factors such as nerve damage, autoimmune diseases, or certain medications.

Search result [2] mentions that differential diagnosis for IPSF involves considering acquired versus congenital anhidrosis. This implies that a thorough evaluation of the patient's medical history and physical examination is necessary to determine the underlying cause of isolated anhidrosis.

In addition, search result [3] discusses the diagnostic work-up and differential diagnosis for isolated hypohidrosis (reduced sweating), which shares some similarities with isolated anhidrosis. The article mentions that treatment depends on the underlying cause, suggesting that a comprehensive evaluation is necessary to determine the best course of action.

Furthermore, search result [4] provides information on the pathogenesis and treatment of acquired idiopathic generalized anhidrosis, which may be relevant in this case.

Based on these findings, it appears that differential diagnosis for isolated anhidrosis with normal sweat glands would involve:

• Ruling out congenital conditions
• Evaluating for acquired conditions such as nerve damage or autoimmune diseases
• Considering the possibility of IPSF (Idiopathic Generalized Anhidrosis)
• Comprehensive evaluation and treatment based on the underlying cause

References: [1] CT Chen, 2018 - "According to the above flowchart, our patient had abnormality of sweat glands and SGF induced anhidrosis could be considered as a differential diagnosis." [2] V Donadio, 2008 - "Differential diagnosis. IPSF is a diagnosis of exclusion. Generalized anhidrosis can be classified first into acquired versus congenital..." [3] S Kedar, Cited by 17 - "Clinical diagnosis​​ Horner's syndrome is diagnosed clinically by observing ptosis (of upper and lower lids), miosis of the ptotic eye and..." [4] by S Kedar · Cited by 17 — Clinical diagnosis​​ Horner's syndrome is diagnosed clinically by observing ptosis (of upper and lower lids), miosis of the ptotic eye and...