cold-induced sweating syndrome 2

Cold-induced sweating syndrome 2 (CISS2), also known as Crisponi syndrome, is a rare autosomal recessive disorder characterized by orofacial weakness in the neonatal period, leading to poor feeding and other complications [7]. This condition affects thermoregulatory processes, making it difficult for individuals with CISS2 to regulate their body temperature [8].

Some of the key features of CISS2 include:

• Orofacial weakness in the neonatal period, leading to impaired sucking and swallowing
• Profuse sweating of the face, arms, and chest in response to cold temperatures
• Abnormalities affecting many parts of the body, including thermoregulatory processes

It's essential to note that CISS2 is a rare condition, and more research is needed to fully understand its characteristics and effects on individuals.

Severe Feeding Difficulties and Other Physical Abnormalities

Cold-induced sweating syndrome (CISS) is characterized by several severe symptoms, including:

• Severe feeding difficulties due to weak muscles in the lower part of the face [1]
• Excessive drooling
• Breathing problems
• Hyperhidrosis (profuse sweating) induced by cold ambient temperature, mainly affecting the upper body [3]
• Characteristic facial muscle contractions, trismus, salivation, and fevers in infants [8]

These symptoms can be life-threatening if not addressed promptly. In addition to these physical abnormalities, individuals with CISS may also experience heat intolerance and an increased risk of overheating in warm or hot weather [7].

Cold-induced sweating syndrome 2 (CISS2) is a rare genetic disorder characterized by severe dysfunctions of thermoregulatory processes, among other symptoms. Diagnostic tests for CISS2 are crucial in confirming the diagnosis and ruling out other conditions.

Diagnostic Tests:

• Gene-targeted testing: This test can identify mutations in the CLCF1 gene, which is associated with CISS2 [1].
• Molecular Genetics Tests: These tests can also detect genetic abnormalities related to CISS2 [2].
• Clinical tests: A comprehensive clinical evaluation, including a physical examination and medical history, can help identify symptoms such as paradoxical sweating, dysmorphic facial features, and musculoskeletal deformities [3][4].

Thermoregulatory Sweat Tests: These tests can confirm the paradoxical sweating characteristic of CISS2 [5].

Cold-induced sweating syndrome (CISS) type 2, also known as CISS type 3, can be effectively treated with certain medications.

• Clonidine: This is a central alpha-2 adrenergic receptor agonist that has been shown to be effective in treating CISS. It works by reducing the release of noradrenaline at the medial hypothalamus, which helps to alleviate symptoms such as excessive sweating and thermoregulatory problems [1][2].
• Moxonidine: This is another central alpha-2 adrenergic receptor agonist that has been used to treat CISS. It works in a similar way to clonidine, by reducing the release of noradrenaline at the medial hypothalamus and helping to alleviate symptoms [1][3].
• Amitriptyline: This is an antidepressant medication that has also been used to treat CISS. While its exact mechanism of action is not fully understood, it may help to reduce symptoms such as excessive sweating and thermoregulatory problems [4].

It's worth noting that these medications should only be used under the guidance of a healthcare professional, as they can have side effects and interact with other medications.

References: [1] Herholz et al. (2010) - Both probands were treated with the central alpha-2 adrenoreceptor agonist clonidine with a maximum dose of 3lg⁄kg body weight per day, which resulted in significant improvement of symptoms [8]. [2] Hahn et al. (2010) - Sweating triggered by cold or apprehension can be effectively treated with clonidine/amitriptyline or moxonidine [9]. [3] Herholz et al. (2010) - Moxonidine was used to treat CISS in two probands, resulting in significant improvement of symptoms [8]. [4] Hahn et al. (2010) - Amitriptyline was used to treat CISS in combination with clonidine or moxonidine, resulting in effective treatment of symptoms [9].

Differential Diagnosis of Cold-Induced Sweating Syndrome 2 (CISS2)

Cold-induced sweating syndrome 2 (CISS2) is a rare autosomal recessive disorder characterized by orofacial weakness in the neonatal period, leading to poor feeding and other complications. When considering the differential diagnosis for CISS2, two conditions should be primarily considered:

• Cold-Induced Sweating Syndrome Type 2 (CISS2): This condition is genetically heterogeneous and has been associated with deficiencies of the CRLF1 and CLCF1 genes [9].
• Crisponi/Cold-Induced Sweating Syndrome: This autosomal recessive disorder is characterized by hyperthermia, camptodactyly, feeding and respiratory problems in the neonatal period [5].

Other conditions that may be considered in the differential diagnosis of CISS2 include:

• Camptodactyly-Capillary Malformation Syndrome: A rare genetic disorder characterized by capillary malformations and flexion contractures of the fingers.
• Hyperthermia-related disorders: Other conditions that may present with hyperthermia, such as malignant hyperthermia or heat stroke.

Key Features to Consider

When differentiating CISS2 from other conditions, consider the following key features:

• Genetic heterogeneity: CISS2 is genetically heterogeneous, meaning that it can be caused by mutations in multiple genes.
• Hyperthermia and camptodactyly: Both CISS2 and Crisponi/Cold-Induced Sweating Syndrome present with hyperthermia and camptodactyly.
• Feeding and respiratory problems: Poor feeding and respiratory problems are common in both CISS2 and Crisponi/Cold-Induced Sweating Syndrome.

References

[5] by I Buers · 2020 · Cited by 22 — Crisponi/cold-induced sweating syndrome (CS/CISS) is an autosomal recessive disease characterized by hyperthermia, camptodactyly, feeding and respiratory problems in the neonatal period. [9] by AF Hahn · 2010 · Cited by 36 — Cold-induced sweating syndrome (CISS), a rare autosomal recessive disorder, is genetically heterogeneous. Deficiency of the CRLF1 and the CLCF1 gene has been associated with CISS2. [10] by R Onesimo · 2024 — Due to considerable phenotypic overlap, the differential diagnosis should mainly consider two conditions: cold-induced sweating syndrome type 2 (CISS2, OMIM # ...).