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Cretinism

Cretinism (most likely from the Latin Christiānum, "Christian") is a condition of severely stunted physical and mental growth due to untreated congenital deficiency of thyroid hormones (hypothyroidism). The term cretin refers to a person so affected. more...

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Etymolology and usage of the term

The term cretin was brought into medical use in the 18th century from an Alpine French dialect where persons with such a condition were especially common (though the cause was unknown). It was used widely as a medical term in the 19th and early 20th centuries, but in recent decades has spread more widely in popular English as a markedly derogatory term for a hopelessly stupid person. Because of its pejorative connotations in popular speech, the term has been largely abandoned by physicians. A cretin of the Pyrenees was called a cagot (kag'ō).

The etymology of the word cretin is not known with certainty. Several hypotheses have been proposed. The most common derivation provided in English dictionaries is from the Latin Christiānum (Christian), via a medieval French dialect (compare modern French chretien). The connecting meaning between "Christian" and "cretin" is not obvious. According to the Oxford English Dictionary, the translation of the Latin term into "human creature" implies that the label "Christian" is a reminder of the humanity of the afflicted, in contrast to brute beasts . Other sources have suggested "Christian" refers to the inability to sin of such a person who lacks the capacity to distinguish right from wrong .

Other speculative etymologies have been offered:

  1. From creta, Latin for chalk, because of the pallor of those affected.
  2. From cretira, Grisson-Romance creature, from Latin creatus.
  3. From cretine, French for alluvium (soil deposited by flowing water), an allusion to the suspected origin from inadequate soil.
    Source: VC Medvei. The History of Clinical Endocrinology. Pearl River, New York: Parthenon Publishing Group. 1993.

Cretinism due to congenital hypothyroidism

Congenital hypothyroidism can be endemic, genetic, or sporadic. If untreated, it results in mild to severe impairment of both physical and mental growth and development.

Poor length growth is apparent as early as the first year of life. Adult stature without treatment ranges from 1 to 1.6 meters, depending on severity, sex and other genetic factors. Bone maturation and puberty are severely delayed. Ovulation is impeded and infertility common.

Neurological impairment may be mild, with reduced muscle tone and coordination, or so severe that the person cannot stand or walk. Cognitive impairment may also range from mild to so severe that the person is nonverbal and dependent on others for basic care. Thought and reflexes are slower.

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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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