Pruritis and Neurocutaneous Dermatoses KCOM/Texas Dermatology Residency Consortium July 2003

Pruritis Fine unmyelinated C fibers Fine unmyelinated C fibers Also control touch, temperature and pain Also control touch, temperature and pain Subepidermal to lateral spinothalamic tract Subepidermal to lateral spinothalamic tract Spinothalamic tract to thalamus Spinothalamic tract to thalamus Thalamus to sensory cortex Thalamus to sensory cortex

Central Itch Perception Sedation effect may decrease “central” itch perception regarding antihistamines like Atarax. Sedation effect may decrease “central” itch perception regarding antihistamines like Atarax. Histamine is a “peripheral” mediator of itch perception Histamine is a “peripheral” mediator of itch perception Naloxone is a “central” opiod antagonist for patients with pruritic cholestasis. Naloxone is a “central” opiod antagonist for patients with pruritic cholestasis.

Mediators of Pruritis Histamine, Kinins, Proteases Histamine, Kinins, Proteases Prostaglandin E lowers threshold for histamine induced pruritis Prostaglandin E lowers threshold for histamine induced pruritis Enkephalins, pentapeptides which bind to opiate receptors in the brain modulate pain and itching centrally. Enkephalins, pentapeptides which bind to opiate receptors in the brain modulate pain and itching centrally. Interleukins implicated in AD. Interleukins implicated in AD.

Substance P 11 amino acid peptide implicated as causing itching in some disorders. 11 amino acid peptide implicated as causing itching in some disorders. Depletes cutaneous nociceptor nerve endings of Substance P after repeated topical application. Depletes cutaneous nociceptor nerve endings of Substance P after repeated topical application.

5-hydroxytryptamine (5-HT) Regulates 5-HT receptors, may be therapeutic Regulates 5-HT receptors, may be therapeutic Ondansetron (Zofran) anti-emetic blocks 5-HT. Ondansetron (Zofran) anti-emetic blocks 5-HT. Therapeutic in cholestatic pruritis Therapeutic in cholestatic pruritis

Variations in Intensity of itch… Psychological trauma Psychological trauma Stress Stress Absence of distractions Absence of distractions Anxiety, fear Anxiety, fear Anatomic regions very susceptible to pruritis: ear canals, eyelids, nostrils, perianal, genital areas. Anatomic regions very susceptible to pruritis: ear canals, eyelids, nostrils, perianal, genital areas.

Treatment Tricyclics: Doxepin, Amitriptyline Tricyclics: Doxepin, Amitriptyline Antihistamines: 1 st line: Antihistamines: 1 st line: Promethazine (Phenergan) Promethazine (Phenergan) Diphenhydramine (Benadryl) Diphenhydramine (Benadryl) Hydroxyzine (Atarax, Vistaril) Hydroxyzine (Atarax, Vistaril) Azatadine (Rynatan) Azatadine (Rynatan)

Treatment Non sedating antihistamines: Non sedating antihistamines: Loratidine (Claritin, Alavert) Loratidine (Claritin, Alavert) Fexofenadine (Allegra) Fexofenadine (Allegra) Acrivastine (Semprex D) Acrivastine (Semprex D) Cetirizine (Zyrtec) Cetirizine (Zyrtec)

Treatment Bag of ice Bag of ice Hot water bottle Hot water bottle “Caine” preparations good for short term relief but often become sensitizers “Caine” preparations good for short term relief but often become sensitizers Doxepin cream or Pramoxine Doxepin cream or Pramoxine Sarna (menthol lotion) Sarna (menthol lotion)

TX: Severe Recalcitrant HIV, CRF, Liver failure HIV, CRF, Liver failure IV Lidocaine – limited by hypotension and short duration of action IV Lidocaine – limited by hypotension and short duration of action Pruritis of cholestasis: Pruritis of cholestasis: Naloxone Naloxone Ondansetron 8mg per day Ondansetron 8mg per day

Paroxysmal Pruritis Sudden in onset, irresistably severe, intense pleasure with scratching Sudden in onset, irresistably severe, intense pleasure with scratching LSC, AD, Nummular, DH, Neurodermatitis, Eosinophilic folliculitis, Uremia, Prurigo, Prurigo Nodularis LSC, AD, Nummular, DH, Neurodermatitis, Eosinophilic folliculitis, Uremia, Prurigo, Prurigo Nodularis

Labwork/Internal Causes CMP: Liver disease, Renal Failure, DM II CMP: Liver disease, Renal Failure, DM II Hepatits Panel: Hepatitis C Hepatits Panel: Hepatitis C TSH: Thyroid (high or low) TSH: Thyroid (high or low) CBC: Anemia, Polycythemia Vera, Leukemia, Myeloma, Hodgkins Lymphoma, Intestinal Parasites CBC: Anemia, Polycythemia Vera, Leukemia, Myeloma, Hodgkins Lymphoma, Intestinal Parasites CXR: R/O Cancer CXR: R/O Cancer

Internal Causes of Pruritis 10-25% of Hodgkins patients have itch (continuous and at times burning) as a symptom, and for 7% it is the FIRST presenting symptom % of Hodgkins patients have itch (continuous and at times burning) as a symptom, and for 7% it is the FIRST presenting symptom. 3% to 47% of patients with generalized pruritis unexplained by skin lesions may have internal cancer. 3% to 47% of patients with generalized pruritis unexplained by skin lesions may have internal cancer.

Polycythemia Vera 1/3 of these patients report pruritis 1/3 of these patients report pruritis Pruritis is induced by temperature changes Pruritis is induced by temperature changes Treatment: Low dose ASA, PUVA, Interferon alpha-2b, chemotherapy. Treatment: Low dose ASA, PUVA, Interferon alpha-2b, chemotherapy. NOTE: Antihistamines ineffective NOTE: Antihistamines ineffective

Biliary Pruritis Chronic liver disease with obstructive jaundice is the cause Chronic liver disease with obstructive jaundice is the cause 20-50% of pts with jaundice have pruritis 20-50% of pts with jaundice have pruritis Central mechanism: elevated CNS opiod peptide levels -> Naloxone treatment Central mechanism: elevated CNS opiod peptide levels -> Naloxone treatment Bile acid levels do not correlate with severity of pruritis Bile acid levels do not correlate with severity of pruritis

Primary Biliary Cirrhosis Women > 30 Women > 30 Starts insidiously, becomes intolerable Starts insidiously, becomes intolerable Jaundice with striking melanotic hyper- pigmentation of the entire skin - except for a “butterfly area” of normal pigmentation in the upper back  Jaundice with striking melanotic hyper- pigmentation of the entire skin - except for a “butterfly area” of normal pigmentation in the upper back 

Primary Biliary Cirrhosis Xanthomas also seen. Xanthomas also seen. Antimitochondrial antibody test + Antimitochondrial antibody test + Alk. Phos, Ceruloplasmin, Bilirubin, Cholesterol Alk. Phos, Ceruloplasmin, Bilirubin, Cholesterol Tx: Cholestyramine, Rifampin, Naloxone, SAM, Prednisolone, Colchicine, Ursodeoxy- cholic acid, Liver Transplant Tx: Cholestyramine, Rifampin, Naloxone, SAM, Prednisolone, Colchicine, Ursodeoxy- cholic acid, Liver Transplant

Renal Failure/Uremic Pruritis MC internal cause of pruritis MC internal cause of pruritis 50-90% of dialysis patients within 6 mos % of dialysis patients within 6 mos. Dialysis related = episodic Dialysis related = episodic Uremic = generalized, intractable, severe Uremic = generalized, intractable, severe Causes are multifactorial Causes are multifactorial TX: Regular dialysis, Epoetin, Emollients, Topical Capsaicin, Antihistamines, Cholestyramine, UVB, Thalidomide TX: Regular dialysis, Epoetin, Emollients, Topical Capsaicin, Antihistamines, Cholestyramine, UVB, Thalidomide

XEROSIS AND PRURITIS IN PATIENT WITH CHRONIC RENAL FAILURE ON HEMODIALYS IS

Winter Itch AKA Asteatotic Eczema, Eczema Craquele AKA Asteatotic Eczema, Eczema Craquele Cause: frequent harsh bathing in winter Cause: frequent harsh bathing in winter Elderly Elderly TX: Lubrication of skin immediately after bathing TX: Lubrication of skin immediately after bathing Lac-Hydrin 12% Lac-Hydrin 12%

Pruritis Ani Neurodermatitis, paroxysmal Neurodermatitis, paroxysmal Requires ruling out other causes: Requires ruling out other causes: Allergic contact from creams applied Allergic contact from creams applied Irritation: spicy foods, cathartics, leakage, may need change in diet Irritation: spicy foods, cathartics, leakage, may need change in diet Fungal cultures, KOH, DTM, Nickersons, Wood’s lamp exam, Bacterial culture. Fungal cultures, KOH, DTM, Nickersons, Wood’s lamp exam, Bacterial culture. Stool for Ova and Parasites, Pinworm. Stool for Ova and Parasites, Pinworm. Anal gonorrhea frequently overlooked Anal gonorrhea frequently overlooked

Pruritis Ani Treatment Treatment Meticulous toilet care using soft cellulose tissue paper and whenever possible washed with mild soap and water. Meticulous toilet care using soft cellulose tissue paper and whenever possible washed with mild soap and water. Wet toilet tissue preferred Wet toilet tissue preferred Tucks, Balneol, Pramosone Tucks, Balneol, Pramosone Allow cultures to direct specific therapy Allow cultures to direct specific therapy

Pruritis Scroti LSC variant LSC variant Infections possible but unlikely Infections possible but unlikely Candida produces burn more than itch Candida produces burn more than itch Low potency steroids only as skin here can get steroid addicted Low potency steroids only as skin here can get steroid addicted Pramosone (Pramoxine), Zonalon (Doxepin) Pramosone (Pramoxine), Zonalon (Doxepin)

Pruritis Vulvae MC cause is non-specific dermatitis MC cause is non-specific dermatitis Candida infection common during pregnancy/post oral antibiotics Candida infection common during pregnancy/post oral antibiotics Consider LS&A, Dysesthetic Vulvodynia and Psoriasis. Also Trichomonas Treatment same as Pruritis Scroti Consider LS&A, Dysesthetic Vulvodynia and Psoriasis. Also Trichomonas Treatment same as Pruritis Scroti Treatment failure should prompt referral or biopsy. Treatment failure should prompt referral or biopsy.

Puncta Pruritica (Itchy Points) One or two intensely itching spots in clinically normal skin, sometimes followed by the appearance of SK. One or two intensely itching spots in clinically normal skin, sometimes followed by the appearance of SK. Treatment CRYO, Curettage or Punch biopsy Treatment CRYO, Curettage or Punch biopsy

Aquagenic Pruritis & Aquadynia AP provoked by water at any temperature usually with family history of the same AP provoked by water at any temperature usually with family history of the same Degranulation of mast cells within minutes Degranulation of mast cells within minutes Aquadynia is a “burning” variant of AP Aquadynia is a “burning” variant of AP Assoc: polycythemia vera, hypereosinophilic synd, JXG, myelodysplastic synd. Assoc: polycythemia vera, hypereosinophilic synd, JXG, myelodysplastic synd. TX: OAH, Prednisone, OS, Capsaicin, NTG, Propranolol, Clonidine TX: OAH, Prednisone, OS, Capsaicin, NTG, Propranolol, Clonidine

Scalp Pruritis Elderly patients Elderly patients Non-scaling, non-erythematous, without excoriations (cannot diagnose SD, PV or LSC) Non-scaling, non-erythematous, without excoriations (cannot diagnose SD, PV or LSC) Probably a chronic folliculitis of some sort Probably a chronic folliculitis of some sort Cause unknown in most cases Cause unknown in most cases TX: difficult, tar, SA, TS, IL steroids, OAH TX: difficult, tar, SA, TS, IL steroids, OAH

Drug Induced Pruritis Chloroquine Chloroquine Amiodarone Amiodarone Hydroxyethyl Starch or HES (Volume expander, human plasma substitute) Hydroxyethyl Starch or HES (Volume expander, human plasma substitute)

Prurigo/Prurigo Nodularis Extremities – Papules/nodules, firm, verrucous in late lesions Extremities – Papules/nodules, firm, verrucous in late lesions Bleeding, scarring, chronic, paroxysmal. Bleeding, scarring, chronic, paroxysmal. Severe but itch is restricted to lesions themselves Severe but itch is restricted to lesions themselves Bx R/O PLEVA, DH, TAD, Scabies, AD, Insect bite, Papular urticaria, Contact. Bx R/O PLEVA, DH, TAD, Scabies, AD, Insect bite, Papular urticaria, Contact. Treatment and Etiology: Unknown. Treatment and Etiology: Unknown.

Prurigo Nodularis with secondary bacterial infection

Prurigo Pigmentosa Rare, etiology unknown Rare, etiology unknown Japanese women in spring and summer Japanese women in spring and summer Sudden onset of erythematous papules that leave reticulated hyperpigmentation when they heal, often recurrent. Sudden onset of erythematous papules that leave reticulated hyperpigmentation when they heal, often recurrent. upper back, nape, clavicular & chest upper back, nape, clavicular & chest H&E lichenoid infiltrate w/ psoriasiform hyperplasia H&E lichenoid infiltrate w/ psoriasiform hyperplasia Minocycline 100mg BID, Dapsone. Minocycline 100mg BID, Dapsone.

Papuloerythroderma of Ofuji Rare, Japan Rare, Japan Widespread flat topped papules that strikingly spare the skin folds, producing bands of uninvolved cutis, known as the DECK CHAIR SIGN Widespread flat topped papules that strikingly spare the skin folds, producing bands of uninvolved cutis, known as the DECK CHAIR SIGN PATH: dense lymphohist. infilt. w/ eosinophils in papillary dermis PATH: dense lymphohist. infilt. w/ eosinophils in papillary dermis Assoc: HIV, lymphoma Assoc: HIV, lymphoma TX: Oral steroids TX: Oral steroids

Lichen Simplex Chronicus AKA Neurodermatitis Circumscipta AKA Neurodermatitis Circumscipta Result of long term rubbing/scratching Result of long term rubbing/scratching Striae form a criss-cross pattern, and between them is a mosaic of flat topped, shiny smooth quadrilateral facets Striae form a criss-cross pattern, and between them is a mosaic of flat topped, shiny smooth quadrilateral facets Paroxysmal, neck, wrists, ankles Paroxysmal, neck, wrists, ankles TX: TS, IL, Occlusion, Zonalon, Capsaicin TX: TS, IL, Occlusion, Zonalon, Capsaicin

PSYCHODERMATOLOGY Onychophagia – nail biting Onychophagia – nail biting Dermatophagia – biting one’s own skin Dermatophagia – biting one’s own skin Lip licking “clown mouth make-up” Lip licking “clown mouth make-up” OCD – complusive hand washing OCD – complusive hand washing Bulimia – crusted papules on dorsum of hands from cuts by teeth Bulimia – crusted papules on dorsum of hands from cuts by teeth Fist clenching – fingertip swelling and ecchymosis, subungual hemorrhage Fist clenching – fingertip swelling and ecchymosis, subungual hemorrhage

Irritant Hand Dermatitis Pearl OCD is often the cause, repetitive hand- washing OCD is often the cause, repetitive hand- washing Growing body of evidence supporting a neurobiological cause of disease Growing body of evidence supporting a neurobiological cause of disease Treatment with Clomipramine, Fluoxetine, Fluvoxamine, Sertraline, Paroxetine, Venlafaxine Treatment with Clomipramine, Fluoxetine, Fluvoxamine, Sertraline, Paroxetine, Venlafaxine Behavioral therapy Behavioral therapy

Delusions of Parasitosis “Matchbox sign” “Matchbox sign” Belief is “fixed” in patient’s mind. Belief is “fixed” in patient’s mind. Middle aged or elderly women MC. Middle aged or elderly women MC. Work-up: Bx, CBC, UA, LFTs, TSH, Iron, B- 12, Folate, Electolytes. Work-up: Bx, CBC, UA, LFTs, TSH, Iron, B- 12, Folate, Electolytes. Psych consult usually refused. Psych consult usually refused. Pimozide 1 to 12mg plus Cogentin or Benadryl to allay Extrapyramidal SEs. Pimozide 1 to 12mg plus Cogentin or Benadryl to allay Extrapyramidal SEs.

Neurotic Excoriations Patient often unaware they are doing it Patient often unaware they are doing it Compulsion: Tension -> Picking -> Relief Compulsion: Tension -> Picking -> Relief Acne excorie de jeune filles Acne excorie de jeune filles MC assocs: depression, OCD and anxiety MC assocs: depression, OCD and anxiety TOC: Doxepin, Buspar. TOC: Doxepin, Buspar. Co-manage with a therapist to manage self-aggressive behaviors. Co-manage with a therapist to manage self-aggressive behaviors.

ACNE EXCORIE

Factitious Dermatitis Self Inflicted for secondary gain  sympathy, escape responsibility, disability. Self Inflicted for secondary gain  sympathy, escape responsibility, disability. Distinctive clear cut bizarre appearance. Distinctive clear cut bizarre appearance. Usually linear & arranged symmetrically Usually linear & arranged symmetrically Chemical burns, injected foreign material, sharp instruments, tight cords  lymphedema, injection of air  crepitus/subutaneous emphysema, non- healing post-op wound. Chemical burns, injected foreign material, sharp instruments, tight cords  lymphedema, injection of air  crepitus/subutaneous emphysema, non- healing post-op wound.

Factitious Dermatitis How do you prove the diagnosis ? How do you prove the diagnosis ? Occlusive dressing, ie cast, unna boot. Occlusive dressing, ie cast, unna boot. Biopsy with polarization to r/o FB. Biopsy with polarization to r/o FB. If the patient is hospitalized, a resourceful nurse may be helpful. If the patient is hospitalized, a resourceful nurse may be helpful. Psych consult usually refused. Psych consult usually refused. DOC: Pimozide, Prozac. DOC: Pimozide, Prozac.

Trichotillomania Varying lengths of broken hairs present and lack of nail pitting helps R/O AA. Varying lengths of broken hairs present and lack of nail pitting helps R/O AA. MC: frontal scalp, eyebrows, eyelashes. MC: frontal scalp, eyebrows, eyelashes. Onychophagy / nail biting may be present. Onychophagy / nail biting may be present. Etio: Psychosocial stress in the family Etio: Psychosocial stress in the family Bx: perifollicular hemorrhage, pigment casts, trichomalacia Bx: perifollicular hemorrhage, pigment casts, trichomalacia Assoc: Depression, OCD, Anxiety Assoc: Depression, OCD, Anxiety Child Psychiatrist consult, Anafranil, Prozac. Child Psychiatrist consult, Anafranil, Prozac.

Twisted distorted hair shaft “TRICHOMALACIA”

Pigmented follicular cast

Cutaneous neurosis characterized by an uncontrollable desire to rub or pinch oneself to form bruised areas on the skin, sometimes as a defense against pain elsewhere. Cutaneous neurosis characterized by an uncontrollable desire to rub or pinch oneself to form bruised areas on the skin, sometimes as a defense against pain elsewhere. Dermatothlasia

Bromidosiphobia Neurosis/conviction that one’s sweat is malodorous/repugnant/keeps people away. Neurosis/conviction that one’s sweat is malodorous/repugnant/keeps people away. Patient unable to accept evidence to the contrary Patient unable to accept evidence to the contrary Early symptom of schizophrenia Early symptom of schizophrenia Males, average age is 25. Males, average age is 25. Pimozide Pimozide

Body Dysmorphic Disorder Delusion of having an ugly body part Delusion of having an ugly body part Obsessional features and depression Obsessional features and depression Risk of suicide Risk of suicide 1% of US population 1% of US population SSRIs helpful SSRIs helpful

Glossodynia/Burning Tongue Post-menopausal women Post-menopausal women Constant burning of tongue, mouth, lips Constant burning of tongue, mouth, lips No objective findings No objective findings No known etiology – Sjogren’s?, B-12? Folate?, Iron? DM II? No known etiology – Sjogren’s?, B-12? Folate?, Iron? DM II? TOC: Mood altering drugs. TOC: Mood altering drugs.

Scalp Dysesthesia Pain, burning or pruritic symptoms Pain, burning or pruritic symptoms No objective findings No objective findings Psychiatric overlay Psychiatric overlay TOC: Antidepressants TOC: Antidepressants

Vulvodynia (Burning Vulva Synd) 1) Severe pain on vestibular touch or attempted vaginal entry 1) Severe pain on vestibular touch or attempted vaginal entry 2) Tenderness to pressure localized to vulvar vestibule 2) Tenderness to pressure localized to vulvar vestibule 3) Vulvar erythema of varying degrees 3) Vulvar erythema of varying degrees Patients are white, nulliparous, age 32. Patients are white, nulliparous, age 32. R/O candida, HPV, Trichomonas, contact R/O candida, HPV, Trichomonas, contact

Vulvodynia (Burning Vulva Synd) Treatment: Lubricant prior to intercourse Treatment: Lubricant prior to intercourse Topical anesthetics Topical anesthetics Low oxalate diet Low oxalate diet Calcium 200mg and Citrate 950mg daily Calcium 200mg and Citrate 950mg daily Alpha INF injections Alpha INF injections Surgical excision Surgical excision

Notalgia Paresthetica Unilateral infrascapular Unilateral infrascapular Pruritis, burning pain, hyperalgesia tenderness Pruritis, burning pain, hyperalgesia tenderness Pigmented patch localized to 2 nd to 6 th thoracic spinal nerves Pigmented patch localized to 2 nd to 6 th thoracic spinal nerves Macular amyloidosis may be found on Bx. Macular amyloidosis may be found on Bx. Topical Capsaicin, Anesthetics & Steroids Topical Capsaicin, Anesthetics & Steroids Paravertebral blocks Paravertebral blocks

Meralgia Paresthetica Aka Roth-Bernhardt Disease Aka Roth-Bernhardt Disease Persistent numbness with periodic lancinating pain of anterolateral thigh. Persistent numbness with periodic lancinating pain of anterolateral thigh. Lateral femoral cutaneous nerve. Lateral femoral cutaneous nerve. Middle aged obese men Middle aged obese men Surgical decompression of lateral femoral cutaneous nerve. Surgical decompression of lateral femoral cutaneous nerve.

Complex Regional Pain Synd. Aka Reflex Sympathetic Dystrophy Aka Reflex Sympathetic Dystrophy Burning Pain, Hyperesthesia and trophic disturbances due to injured peripheral nerve, usually upper extremity Burning Pain, Hyperesthesia and trophic disturbances due to injured peripheral nerve, usually upper extremity Skin becomes shiny, cold, profusely sweaty, cracked, edematous. Skin becomes shiny, cold, profusely sweaty, cracked, edematous. Late: atrophy, flexion contractures and osteoporosis. Late: atrophy, flexion contractures and osteoporosis. CRPS Type II has a precipitating event CRPS Type II has a precipitating event Tx: Neurologist and Anesthesiologist Tx: Neurologist and Anesthesiologist

Reflex Sympathetic Dystrophy

Trigeminal Trophic Lesions After rhizotomy or alcohol injection to trigeminal nerve for Tic Doloureaux After rhizotomy or alcohol injection to trigeminal nerve for Tic Doloureaux Slowly enlarging uninflamed ulcer may appear on the cheek beside the nasal ala Slowly enlarging uninflamed ulcer may appear on the cheek beside the nasal ala Onset: wks-yrs s/p trigeminal nerve injury. Onset: wks-yrs s/p trigeminal nerve injury. Etio: Self-inflicted trauma to numb skin Etio: Self-inflicted trauma to numb skin Postencephalic Trophic Ulcer – nose s/p encephalitis Postencephalic Trophic Ulcer – nose s/p encephalitis

Trigeminal Trophic Lesions

Malum Perforans Pedis Aka Chronic Neurotrophic Ulcer

Malum Perforans Pedis Assoc with denervating diseases such as tabes dorsalis, leprosy, arteriosclerosis, diabetes. Assoc with denervating diseases such as tabes dorsalis, leprosy, arteriosclerosis, diabetes. Loss of pain sensation at a site of repeated trauma- usually ball of foot Loss of pain sensation at a site of repeated trauma- usually ball of foot Begins as circumscribed hyperkeratosis -> sloughs, necrosis, infection, osteomyelitis Begins as circumscribed hyperkeratosis -> sloughs, necrosis, infection, osteomyelitis Tx: offload pressure, debridement Tx: offload pressure, debridement

Sciatic Nerve Injury Etio: improper injection of buttocks Etio: improper injection of buttocks Foot drop, skin becomes shiny, thin and often edematous Foot drop, skin becomes shiny, thin and often edematous Older patients more susceptible due to decreased muscle mass Older patients more susceptible due to decreased muscle mass Injections should be upper outer quadrant of buttock Injections should be upper outer quadrant of buttock Surgical exploration of sciatic nerve helpful Surgical exploration of sciatic nerve helpful

Riley Day Syndrome Aka Familial Dysautonomia Aka Familial Dysautonomia Defective lacrimation, excessive sweating, drooling and transient truncal erythema. Defective lacrimation, excessive sweating, drooling and transient truncal erythema. Acrocyanosis of the hands. Acrocyanosis of the hands. Absence of fungiform and circumvallate papillae of the tongue. Absence of fungiform and circumvallate papillae of the tongue. Scalp feels ticklish when stroked lightly Scalp feels ticklish when stroked lightly Decreased pain sensation Decreased pain sensation Impaired temperature and blood pressure regulation Impaired temperature and blood pressure regulation

Riley Day Syndrome Schirmer test + for lacrimal dysfunction Schirmer test + for lacrimal dysfunction Intradermal Histamine – diminished flare. Intradermal Histamine – diminished flare. Hand immersion in H2O -> red mottling. Hand immersion in H2O -> red mottling. Increased serum ratio of DOPA to dihydroxyphenylglycol. Increased serum ratio of DOPA to dihydroxyphenylglycol. Etio:“complex catecholamine interactions” Etio:“complex catecholamine interactions” Decreased unmyelinated/small myelinated neurons Decreased unmyelinated/small myelinated neurons Treatment is supportive Treatment is supportive

Syringomelia Aka Morvan’s Disease Aka Morvan’s Disease Etio: expansion of spinal cord canal compressing spinal nerves. Etio: expansion of spinal cord canal compressing spinal nerves. Upper extremities and fingers Upper extremities and fingers Insidious onset of weakness, hyperhidrosis, sensory disturbances especially thumb and forefinger. Insidious onset of weakness, hyperhidrosis, sensory disturbances especially thumb and forefinger. Pain and temperature lost, but tactile ok. Pain and temperature lost, but tactile ok.

Syringomelia Asymmetric scalp hair growth with a sharp midline demarcation Asymmetric scalp hair growth with a sharp midline demarcation Hypertrophy of limbs Hypertrophy of limbs Derm Ddx: Leprosy Derm Ddx: Leprosy Unlike leprosy, syringomelia does not interfere with sweating or block the flare around a histamine wheal Unlike leprosy, syringomelia does not interfere with sweating or block the flare around a histamine wheal

Congenital Sensory Neuropathy Insensitivity to pain Anhidrosis Sense of touch intact Recurrent acral ulcers Repeated injuries to hands result in mutilation Treatment: avoid trauma to hands

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