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Myxedema

Hypothyroidism is the disease state caused by insufficient production of thyroid hormone by the thyroid gland. There are several distinct causes for chronic hypothyroidism, the most common being Hashimoto's thyroiditis and hypothyroidism following radioiodine therapy for hyperthyroidism. more...

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The severity of hypothyroidism varies widely. Patients are classified as "subclinical hypothyroid" if diagnostic findings show thyroid hormone abnormalities, but they do not exhibit any symptoms. Others have moderate symptoms that can be mistaken for other diseases and states. Advanced hypothyroidism may cause severe complications, the most serious one of which is myxedema.

Signs and symptoms

Adults

  • Slowed speech and a hoarse, breaking voice
  • Impaired memory
  • Increased sensitivity to heat and cold
  • A slow heart rate and sluggish reflexes
  • Dry puffy skin, especially on the face, and hair loss, especially thinning of the outer 1/3 of the eyebrows
  • Depression (especially in the elderly)
  • Weight gain and obesity
  • Anemia
  • Slowed metabolism
  • Constipation
  • Fatigue
  • Choking sensation or difficulty swallowing
  • Shortness of breath
  • Increased need for sleep
  • Muscle cramps and joint pain
  • Decreased sex drive
  • Brittle fingernails
  • Paleness
  • Irritability
  • Abnormal menstrual cycles
  • Thin, fragile or absent cuticles
  • Infertility or difficulty becoming pregnant
  • Elevated serum cholesterol

Children

Very Early Infancy

  • Feeding problems
  • Constipation
  • Hoarseness
  • Excessive sleepiness

Later Infancy/Toddlerhood

  • Protruding abdomen
  • Rough, dry skin
  • Delayed teething

After Toddlerhood

  • Lack of normal growth
  • Abnormally short for age on height/weight charts
  • Puffy, bloated appearance
  • Below-normal intelligence for age

Causes

Neonatal hypothyroidism

Thyroid hormone is very important to neural development in the neonatal period. A deficiency of thyroid hormones can lead to cretinism. For this reason it is important to detect and treat thyroid deficiency early. In Australia, the Netherlands, and many other countries this is done by testing for TSH on the routine neonatal heel pricks performed by law on all newborn babies.

Hashimoto's thyroiditis

Sometimes called Hashimoto's Disease, this is part of the spectrum of autoimmune diseases and is related to Graves' disease, lymphocytic thyroiditis, and other organ-related autoimmune conditions such as Addison's disease, diabetes, premature menopause and vitiligo. Hashimoto's is a lymphocytic and plasmacytic thyroid inflammation that eventually destroys the thyroid. Patients require permanent thyroid hormone replacement.

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"Klingon Head"
From American Family Physician, 10/1/05 by Raymond T. Kuwahara

A 15-year-old adolescent presented with concerns about the appearance of his scalp (see accompanying figure). The patient wished to know what was causing the skinfolds because schoolmates were teasing him, calling him "Klingon Head." The skinfolds first appeared in late childhood, and as he grew older, they grew in conjunction with his head size. Family history did not reveal any other family members with similar findings. On physical examination, the patient was obese but in good health.

[FIGURE OMITTED]

Question

Based on the patient's history and physical examination, which one of the following is the correct diagnosis?

[] A. Cutis verticis gyrata.

[] B. Pilar cyst (wen).

[] C. Nevus of Ota.

[] D. Cerebriform nevus.

[] E. Lipoma.

Discussion

The answer is A: cutis verticis gyrata. Cutis verticis gyrata is a descriptive diagnosis for an abnormal-appearing overgrowth of the scalp in relation to the skull. Biopsies usually show a thickened dermis with possible sebaceous hyperplasia, with or without collagen excess. (1,2) No medical treatment is needed; the skin is simply too large for the head. Plastic surgery consultation can be considered for cosmetic reasons.

Primary cutis verticis gyrata almost always occurs in males. It may be genetic, although its mode of inheritance is uncertain. (1) The skin findings may appear in late childhood or during puberty and slowly become more accentuated.

Cutis verticis gyrata can occur in genetically inherited syndromes such as pachydermoperiostosis (hypertrophic osteoarthropathy or Touraine-Solente-Gole syndrome) and Rosenthal-Kloepfer syndrome (acromegaloid phenotype with cutis verticis gyrata and corneal leukoma). (3) Endocrine disorders associated with secondary cutis verticis gyrata include acromegaly, cretinism, and myxedema. (4) Paraneoplastic syndromes can be another secondary cause. (5)

Most often, patients with cutis verticis gyrata are of normal intelligence, although its preponderance is greater in patients with intellectual disabilities. It affects 0.5 percent of the intellectually disabled populations in Scotland, Sweden, and the United States. (1)

Differential diagnosis includes, but is not limited to, nevus sebaceous, pilar cyst, lipoma, nevus of Ota, and cerebriform nevus. Nevus sebaceous usually develops earlier in life and appears as a papulated growth with a nevoid appearance. Pilar cysts and lipomas may form on the scalp, but typically are localized masses unlikely to cause uniform changes to the entire scalp. Nevus of Ota is a congenital hyperpigmented patch that usually is found in the ophthalmomaxillary region, hence the name nevus fuscoceruleus ophthalmomaxillaris. Cerebriform nevus appears at birth and does not present on the entire scalp.

REFERENCES

(1.) Champion RH, Burton JL, Burns DA, Breathnack SM. Textbook of dermatology. 6th ed. London: Blackwell Science, 1998:2943-4.

(2.) Diven DG, Tanus T, Raimer S. Cutis verticis gyrata. Int J Dermatol 1991;30:710-1.

(3.) Thappa DM, Sethuraman G, Kumar GR, Elangovan S. Primary pachydermoperiostosis: a case report. J Dermatol 2000;27:106-9.

(4.) Corbalan-Velez R, Perez-Ferriols A, Aliaga-Bouihe A. Cutis verticis gyrata secondary to hypothyroid myxedema. Int J Dermatol 1999;38:781-3.

(5.) Ross JB, Tompkins MG. Cutis verticis gyrata as a marker of internal malignancy. Arch Dermatol 1989;125: 434-5.

The editors of AFP welcome submission of photographs and material for the Photo Quiz department. Contributing editor is Dan Stulberg, M.D. Send photograph and discussion to Monica Preboth, AFP Editorial, 11400 Tomahawk Creek Pkwy., Leawood, KS 66211-2672 (e-mail: mpreboth@aafp.org).

RAYMOND T. KUWAHARA, M.D.

MICHAEL SWANN, M.D.

CARLOS GARCIA, M.D.

University of Oklahoma

619 NE 13th St.

Oklahoma City, OK 73104

COPYRIGHT 2005 American Academy of Family Physicians
COPYRIGHT 2005 Gale Group

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