Wednesday, May 26, 2010

64 Year-old Man with dysesthesia and alopecia

Abstract: 64 yo man with abnormal sensation and localized alopecia on the left thigh.

History:  This 64 yo business man has experienced dysesthesia on the lateral aspect of his left thigh for the past few years.  He has noticed alopecia at the site of his symptoms.  His health is good and he takes no medications by mouth.  For the past 30 years, he has done business in Indonesia and spends two to three months a year there.  There is a history of lower back pain, but no diabetes and no history of trauma.
O/E:  On the left lateral thigh there is a side, 7 cm in diameter area of mild lichenification and alopecia.  The findings are subtle but real.  I am not sure how convincing the photos are.
Clinical Photos:

IMPRESSION:  This is most likely merlagia paresthetica.      

The findings are subtle.  Do you accept this diagnosis?  Would a referral to a neurologist be appropriate?  Should the patient just be reassured?

1. Nabavi DG, et. al.. [Meralgia paresthetica. A rare differential diagnosis of circumscribed alopecia]  Dtsch Med Wochenschr. 1996 Jun 21;121(25-26):834-8. ([Article in German])
Klinik und Poliklinik für Neurologie, Universität Münster.
HISTORY AND CLINICAL FINDINGS: Two patients with circumscribed alopecia on the lateral aspect of the thigh underwent a neurological investigation after medical and dermatological examinations had failed to establish the cause. Patient 1 also had neuralgia of the genitofemoral nerve after osteotomy of the iliac crest; patient 2 had insulin-dependent diabetes mellitus. Within the affected part of the skin both patients had sensory dysfunctions over the area of distribution of the cutaneous lateral femoral nerve. Patient 2 additionally had sensory dysfunctions in other areas of innervation. INVESTIGATIONS: Neurogram and recordings of sensory evoked potentials revealed decreased amplitudes on the affected side, establishing the diagnosis of meralgia paresthetica. TREATMENT AND COURSE: The painful neuropathy was successfully treated in both patients with carbamazepine (patient 1: 1.600 mg daily; patient 2: 900 mg daily). CONCLUSION: Circumscribed alopecia can be caused by peripheral nerve lesions. It should be considered in the differential diagnosis, particularly as the cause can be easily established.

2. Harney D, Patijn J.   Meralgia paresthetica: diagnosis and management strategies. Pain Med. 2007 Nov-Dec;8(8):669-77.
Department of Anesthesiology and Pain Management, University Hospital Maastricht, Maastricht, The Netherlands.
Meralgia paresthetica (MP), coined from the Greek words meros (thigh and algos), meaning pain, is a neurological disorder characterized by a localized area of paresthesia and numbness on the anterolateral aspect of the thigh. The incidence of MP is more common than often reported in the literature. The etiology of MP includes mechanical factors such as obesity, pregnancy, and other conditions associated with increased intrabdominal pressure, surgery of the spine, and pelvic osteotomy. A coherent history and pertinent physical examination is essential in making the diagnosis; however, red flags such as tumor and lumbar disk herniations must be recognized and appropriately treated. While the diagnosis of MP is essentially a clinical diagnosis, sensory nerve conduction velocity studies are a useful adjunctive diagnostic tool. The management of MP includes treating the underlying cause (if any) and conservative management. Surgery should only be adopted when all nonoperative therapies have failed to manage the condition in an effective manner.

Friday, May 21, 2010

Facial erythema Secondary to Topical Corticosteroids

Abstract:  37 yo man with marked facial erythema who has been using hydrocortisone valerate 0.2% cream (HC valerate) for 20 years.

HPI:  HC valerate was prescribed for a facial eruption when the patient was a teenager.  He's been using it ever since.  Over time, he has developed marked painful facial erythema.

O/E:  There is fiery erythema over the malar eminences, periorbital areas and portions of forehead.  Three weeks after stopping the HC valerate, using cool compresses b.i.d. and minocycline 100 mg b.i.d. the process persists.

Clinical Photo: May 20, 2010 (three weeks after stopping HC valerate

Diagnosis:  Red Face Syndrome.  Facial addiction to topical corticosteroid.

Questions:  Other than abstinence and cold compresses, are there any other treatments you have had success with?  What about topical tacrolimus ointment?

Reference:  The most helpful reference I have found is:
Papaport MJ, Rapaport V. Eyelid dermatitis to red face syndrome to cure: clinical experience in 100 cases.  J Am Acad Dermatol. 1999 Sep;41(3 Pt 1):435-42.
A retrospective review of all eyelid dermatitis patients seen over an 18-year period revealed a large subgroup of patients who had, as the basis for their ongoing problem, an addiction to the use of topical or systemic corticosteroids. This group of 100 patients often sought many consultations with various physicians. Unrelenting eyelid or facial dermatitis often resulted in the use of increasing amounts of corticosteroids for longer periods of time. Soon the skin became addicted. Once the work-up ruled out other causes, the remedy for the problem was absolute total cessation of corticosteroid usage. This article describes the typical history of the problem, the evaluation of these patients, and the distinctive pattern of flaring erythema that ensued when the corticosteroids were ceased. We stress the absolute necessity of total cessation of corticosteroid use as the only treatment for corticosteroid addiction. We also demonstrate that no additional therapy or further consultations were necessary once remission was obtained after topical corticosteroid abuse was halted.

This may be worth a trial:
Goldman D. Tacrolimus ointment for the treatment of steroid-induced rosacea: a preliminary report.  J Am Acad Dermatol. 2001 Jun;44(6):995-8
BACKGROUND: Excessive topical corticosteroid application to facial areas commonly leads to steroid-induced rosacea. This may be a recalcitrant problem that requires months of antibiotic and anti-inflammatory therapy before it resolves. OBJECTIVE: The purpose of this article is to review the use of tacrolimus ointment, a macrolide anti-inflammatory ointment for the treatment of 3 patients with steroid-induced rosacea. METHODS: Three patients with steroid-induced rosacea applied tacrolimus ointment, 0.075% twice daily for 7 to 10 days. Patients were also instructed to avoid topical corticosteroid use and other rosacea-aggravating substances including caffeine, spicy foods, alcohol, hot fluids, and fluoride. Patients were observed for tenderness, erythema, and relief of pruritus. RESULTS: Pruritus, tenderness, and erythema were resolved in all 3 patients after 7 to 10 consecutive days' use of tacrolimus 0.075% ointment in conjunction with avoidance of topical steroids, caffeine, spicy food, alcohol, hot fluids, and fluoride. CONCLUSION: This preliminary study demonstrates that tacrolimus 0.075% ointment may be effective for patients with steroid-induced rosacea, when combined with avoidance of topical steroid use, as well as avoidance of other agents known to aggravate rosacea (caffeine, spicy foods, alcohol, hot fluids, and fluoride).

Friday, May 07, 2010

14 yo boy with a genodermatosis

Presented by:
Drs Israa Al Shawi, FICMS,  & Ali Al Hilaly, DVD
Al_Hashmia Hospital

Abstract:  14 to boy with photosensitivity and verrucous skin lesions.

HPI:  This 14 yo boy's story started when he was two months old. He developed many bullae on scalp and extremities which healed spontaneously leaving a thickened skin.  Over the years, he also developed many dark brown lesions in a generalized distribution.   He has two sisters (age three and five) and two young cousins (male and female) with the same features.  His parents are cousins and they are unaffected. There are a sister and brother who are normal

O/E:  Large numbers of  brown-black  verrucous  papules  and  plaques distributed  all over the body. These lesions  resemble seborrheic keratosis. He has erythema of sun-exposed areas and thick brown scales of scalp and sides of the face with alopecia.  His body hair is coarse and is reported to sometimes improve spontaneously.

Clinical Photos:

Lab:  None available at present

Pathology: One verrucous papule showed hyperkeratosis, acanthosis, papillomatosis and intranuclear inclusions consistent with verruca vulgaris.

Diagnosis: Not clear

Questions: This  appears to be an autosomal recessive disorder.
If we consider it as Epidermodysplasia verruciformis, what is the explanation for scarring alopecia, photosensitivity and hypertrichosis?
Could this be a patient with Rothmund-Thompson Syndrome?
What are your opinions about the diagnosis?
What further studies can be done to establish the diagnosis, or can this be made clinically?
If genetic testing is indicated, what tests should be done and what kind of samples would they need?

Rothmund-Thomson Syndrome [Internet].
Wang LL, Plon SE.
In: Pagon RA, Bird TC, Dolan CR, Stephens K, editors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-.
1999 Oct 06 [updated 2009 Apr 07].


Disease characteristics. Rothmund-Thomson syndrome (RTS) is characterized by poikiloderma; sparse hair, eyelashes, and/or eyebrows/lashes; small stature; skeletal and dental abnormalities; cataracts; and an increased risk for cancer, especially osteosarcoma. The skin is typically normal at birth; the rash of RTS develops between age three and six months as erythema, swelling, and blistering on the face and subsequently spreads to the buttocks and extremities. The rash evolves over months to years into the chronic pattern of reticulated hypo- and hyperpigmentation, punctate atrophy, and telangiectases, collectively known as poikiloderma. Hyperkeratotic lesions occur in approximately one-third of individuals. Skeletal abnormalities include dysplasias, absent or malformed bones (such as absent radii), osteopenia, and delayed bone formation. Diagnosis/testing. The diagnosis of RTS is established by clinical findings — in particular, the characteristic rash. Routine cytogenetic studies of lymphocytes or skin fibroblasts may reveal mosaic abnormalities of chromosome 8, such as trisomy 8, partial 8q duplication, and tetrasomy 8q, which have been seen in individuals with RTS but are not diagnostic. Skin biopsy may show poikilodermatous changes, which are nonspecific but consistent with RTS. RECQL4 is the only gene associated with RTS to date; although evidence suggests genetic heterogeneity, no other locus for RTS has been identified. Molecular testing of RECQL4 is clinically available. Management. Treatment of manifestations: pulsed dye laser to treat the telangiectatic component of the rash; surgical removal of cataracts; and standard treatment for cancer. Prevention of secondary complications: use of sunscreens with both UVA and UVB protection to prevent skin cancer. Surveillance: annual physical and eye examination, monitoring of skin for lesions with unusual color or texture, screening for osteosarcoma. Agents/circumstances to avoid: excessive sun exposure. Genetic counseling. RTS is inherited in an autosomal recessive manner. At conception, each sib of an affected individual has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier. Once an at-risk sib is known to be unaffected, the risk of his/her being a carrier is 2/3. Carrier testing for at-risk relatives and prenatal testing for pregnancies at increased risk are possible if the disease-causing mutations in the family are known.