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Congenital generalized hypertrichosis: the skin as a clue to complex malformation syndromes.

Pavone P, Praticò AD, Falsaperla R, Ruggieri M, Zollino M, Corsello G, Neri G - Ital J Pediatr (2015)

Bottom Line: The term hirsutism is usually referred to patients, mainly women, who show excessive hair growth with male pattern distribution.Hypertrichosis is classified according to age of onset (congenital or acquired), extent of distribution (generalized or circumscribed), site involved, and to whether the disorder is isolated or associated with other anomalies.Acquired hypertrichosis is more frequent and is secondary to a variety of causes including drug side effects, metabolic and endocrine disorders, cutaneous auto-inflammatory or infectious diseases, malnutrition and anorexia nervosa, and ovarian and adrenal neoplasms.The clinical course of a patient, previously described, with a 20-year follow-up is reported.

View Article: PubMed Central - PubMed

Affiliation: Unit of Pediatrics and Pediatric Emergency, University Hospital "Policlinico-Vittorio Emanuele", Catania, Italy. ppavone@unict.it.

ABSTRACT
Hypertrichosis is defined as an excessive growth in body hair beyond the normal variation compared with individuals of the same age, race and sex and affecting areas not predominantly androgen-dependent. The term hirsutism is usually referred to patients, mainly women, who show excessive hair growth with male pattern distribution.Hypertrichosis is classified according to age of onset (congenital or acquired), extent of distribution (generalized or circumscribed), site involved, and to whether the disorder is isolated or associated with other anomalies. Congenital hypertrichosis is rare and may be an isolated condition of the skin or a component feature of other disorders. Acquired hypertrichosis is more frequent and is secondary to a variety of causes including drug side effects, metabolic and endocrine disorders, cutaneous auto-inflammatory or infectious diseases, malnutrition and anorexia nervosa, and ovarian and adrenal neoplasms. In most cases, hypertrichosis is not an isolated symptom but is associated with other clinical signs including intellective delay, epilepsy or complex body malformations.A review of congenital generalized hypertrichosis is reported with particular attention given to the disorders where excessive diffuse body hair is a sign indicating the presence of complex malformation syndromes. The clinical course of a patient, previously described, with a 20-year follow-up is reported.

No MeSH data available.


Related in: MedlinePlus

Diagnostic algorithm for Congenital Generalized Hypertrichosis
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Fig1: Diagnostic algorithm for Congenital Generalized Hypertrichosis

Mentions: These forms are characterized by generalized hypertrichosis of the face, trunk and limbs, with very early onset without signs of precocious puberty or virilization. They are often associated with cognitive delay, failure to thrive and signs of dysmorphism of the face and extremities (diagnostic flow-chart in Fig. 1). In this review, we have differentiated CGH as 1) isolated, 2) co-occurring with others anomalies or neurological disorders, 3) in the setting of well-known complex syndromes and 4) disorders with hypertrichosis as an uncommon sign. It should be underlined that some of these forms present common features with each other and some abnormalities could be considered as variants of the same syndrome. These syndromes and their genetic mutations are resembled in Table 1.Fig. 1


Congenital generalized hypertrichosis: the skin as a clue to complex malformation syndromes.

Pavone P, Praticò AD, Falsaperla R, Ruggieri M, Zollino M, Corsello G, Neri G - Ital J Pediatr (2015)

Diagnostic algorithm for Congenital Generalized Hypertrichosis
© Copyright Policy - open-access
Related In: Results  -  Collection

License 1 - License 2
Show All Figures
getmorefigures.php?uid=PMC4526284&req=5

Fig1: Diagnostic algorithm for Congenital Generalized Hypertrichosis
Mentions: These forms are characterized by generalized hypertrichosis of the face, trunk and limbs, with very early onset without signs of precocious puberty or virilization. They are often associated with cognitive delay, failure to thrive and signs of dysmorphism of the face and extremities (diagnostic flow-chart in Fig. 1). In this review, we have differentiated CGH as 1) isolated, 2) co-occurring with others anomalies or neurological disorders, 3) in the setting of well-known complex syndromes and 4) disorders with hypertrichosis as an uncommon sign. It should be underlined that some of these forms present common features with each other and some abnormalities could be considered as variants of the same syndrome. These syndromes and their genetic mutations are resembled in Table 1.Fig. 1

Bottom Line: The term hirsutism is usually referred to patients, mainly women, who show excessive hair growth with male pattern distribution.Hypertrichosis is classified according to age of onset (congenital or acquired), extent of distribution (generalized or circumscribed), site involved, and to whether the disorder is isolated or associated with other anomalies.Acquired hypertrichosis is more frequent and is secondary to a variety of causes including drug side effects, metabolic and endocrine disorders, cutaneous auto-inflammatory or infectious diseases, malnutrition and anorexia nervosa, and ovarian and adrenal neoplasms.The clinical course of a patient, previously described, with a 20-year follow-up is reported.

View Article: PubMed Central - PubMed

Affiliation: Unit of Pediatrics and Pediatric Emergency, University Hospital "Policlinico-Vittorio Emanuele", Catania, Italy. ppavone@unict.it.

ABSTRACT
Hypertrichosis is defined as an excessive growth in body hair beyond the normal variation compared with individuals of the same age, race and sex and affecting areas not predominantly androgen-dependent. The term hirsutism is usually referred to patients, mainly women, who show excessive hair growth with male pattern distribution.Hypertrichosis is classified according to age of onset (congenital or acquired), extent of distribution (generalized or circumscribed), site involved, and to whether the disorder is isolated or associated with other anomalies. Congenital hypertrichosis is rare and may be an isolated condition of the skin or a component feature of other disorders. Acquired hypertrichosis is more frequent and is secondary to a variety of causes including drug side effects, metabolic and endocrine disorders, cutaneous auto-inflammatory or infectious diseases, malnutrition and anorexia nervosa, and ovarian and adrenal neoplasms. In most cases, hypertrichosis is not an isolated symptom but is associated with other clinical signs including intellective delay, epilepsy or complex body malformations.A review of congenital generalized hypertrichosis is reported with particular attention given to the disorders where excessive diffuse body hair is a sign indicating the presence of complex malformation syndromes. The clinical course of a patient, previously described, with a 20-year follow-up is reported.

No MeSH data available.


Related in: MedlinePlus