How does werewolf syndrome affect people

Hair may also appear in unusual areas. Not all hair produced by hypertrichosis is the same. Hypertrichosis can create three different types of hair:. Lanugo hair is long, thin, and very soft. It is similar to the hair on the body of a newborn baby. Lanugo hair will typically have no pigment and usually falls out a few weeks after birth.

In people with hypertrichosis, this lanugo hair will remain until it is treated. Vellus hair is usually short, soft, and faintly pigmented. These hairs may appear all over the body except in areas where there are no hair follicles, such as the mucous membranes, the soles of the feet, and the palms of the hands.

Terminal hairs are the darkest of the three types of hair. Terminal hair is usually thick, coarse, and long. It is often associated with hormones and is typically found on the face, armpits, and groin. There are many types of hypertrichosis, which are categorized according to how and when a person develops the condition. The fine lanugo hairs appear in a fetus as usual but do not fade away after birth.

Instead of being born with lanugo or vellus hair, the baby may have terminal hair at birth that grows throughout their life. Affected individuals often have thick, fully pigmented hair that covers their body, including the face. Acquired hypertrichosis develops later in life. It follows many of the same patterns of congenital hypertrichosis.

Hair may be lanugo, vellus, or terminal hair, and it can appear in small patches or over the entire body. Excessive hair growth found on one or more patches of skin. A typical example is a very solid and bushy monobrow, also known as a unibrow.

Commonly mistaken for hypertrichosis, hirsutism affects up to 10 percent of women. Hirsutism is a term that relates to women who develop coarse terminal hairs in a typical male hair-growth distribution pattern, such as on the chin and chest.

Women often develop hirsutism due to a hormone imbalance. They presented hypertrichosis on the face and whole body, although the son had less abundant facial hair. In both, hands and feet were spared, together with the anterior portion of the neck and internal face of the arms. In particular, the dentition of Adrian was reported to be partial with several teeth missing [ 12 ].

The incidence of CGH is unknown, but held to be essentially rare. The incidence is notably higher when the hypertrichosis is one of several signs involved in a complex syndrome. In this case, the incidence of CGH is related to the single condition associated with it [ 12 ]. CGH in its most common form is idiopathic in the absence of underlying endocrine or metabolic disorders. It is assumed to be related to an excess of stimulation of the hair follicles with normal levels of androgen-like hormones [ 1 ].

To date, a clear specific molecular abnormity has not been proved. A hypothesis has been advanced to explain the typical phenotypic aspect of these patients: an atavistic reversion of a suppressed ancestral gene. In the course of evolution genes causing hair growth have been silenced and the appearance of hair in healthy humans can be explained by an erroneous reactivation of such genes [ 13 — 15 ]. In idiopathic CGH, an autosomal dominant trait inheritance with two or more members of the same family affected [ 16 ], an X-linked [ 17 ] and an autosomal recessive [ 6 , 7 ] pattern of inheritance have been described.

The involvement of chromosome 8 has been reported in patients with generalized congenital hypertrichosis, Ambras type [ 8 , 18 , 19 ], and involvement of chromosome X at the locus Xqq CGH is known to be associated with intellective delay, epilepsy, and malformation features, involving different areas of the body, including facial dysmorphism and abnormalities of eyes, heart, bones and kidneys. Specific molecular defects have been reported in well-known syndromes presenting with hypertrichosis.

Diagnosis of CGH is performed at first glance, but a detailed review of patient history and an in-depth physical examination are necessary to determine the presence of other abnormalities beyond the cutaneous manifestation. Particular attention should be given to the presence of other anomalies in particular the face, eyes, teeth, hearth, kidneys, bones, and extremities, and at the same time, to obesity and intellectual disability. The diagnosis directed at identifying the signs associated with CGH and distinguishing it from the acquired form.

The latter group consists of a drug induced hypertrichosis, in particular anti-convulsants such as phenytoin and other drugs, including corticosteroids, cyclosporine and interferon alpha 2; b malnutrition and anorexia nervosa; c endocrine disorders, juvenile dermatomyositis and infectious diseases; d metabolic diseases such as mucopolysaccharidoses Hurler, Hunter, Sanfilippo syndromes , congenital porphyrias, and adrenal enzymatic deficiency; e ovarian and adrenal neoplasms [ 6 ].

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. 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. Syndromes presenting with Generalized Hypertrichosis and related genetic mutations. Legend: CGH: congenital generalized hypertrichosis. CHL is characterized by the presence of fine, blond hair of lanugo type, distributed all over the body except for the palms, soles and mucous membranes [ 6 , 11 ].

In normal individuals, lanugo hairs are often present at birth and tend to gradually disappear over the first months of life. In affected patients, the lanugo distribution continues to progress, involving the whole body [ 7 ].

This form has been reported in patients with abnormalities of chromosome 8q [ 8 , 18 ] and as autosomal dominant trait inheritance but also as sporadic events. In this disorder, patients show a clinical presentation similar to CHL, with hairs distributed over the face, trunk, back and limbs. The individuals affected present with terminal hairs from birth. Familial cases have been reported with autosomal dominant inheritance and X-linked with a responsible gene mapped to Xqq In this form, alongside hypertrichosis, patients present with gingival overgrowth, which is not related to any drug treatment, including anticonvulsants and cyclosporine [ 24 ].

Douzgou reported a typical example of a patient with all those anomalies [ 28 ]. The gingival overgrowth may be diagnosed later. Patients with de novo mutation and also with autosomal recessive inheritance have been reported [ 29 ].

A large family with an autosomal recessive inheritance was reported by Jalili. The affected patients present a clinical pattern of ocular anomalies, with Leber-type retinal involvement, and cone-rod dystrophy. In addition, the patients show trichomegaly, bushy eyebrows and synophrys. Additional features consist of macrodontia and pectus excavatum. In a family, an autosomal recessive inheritance was suggested [ 31 ]. In , Pivnick et al reported on a month-old child who showed diffuse hypertrichosis, facial structural anomalies, symmetrical hyperpigmentation of the sideburn areas of the face and hyperpigmented streaks on the limbs, dolicocephaly and pigmentary retinopathy.

The hyperpigmented skin showed histological features of many separate bundles of smooth muscles in the derma [ 32 ]. Hypertrichosis is a presenting sign.

Molecular anomalies are not known. An autosomal dominant with high mutation rate and rare instances of germinal mosaicism are reported as expression of inheritance [ 33 ]. In , some of the authors of the present article, described a patient who showed CGH, coarse facial features, obesity and, moreover, short stature, brachydactily with broad proximal phalanges and small, dysmorphic nails [ 10 ]. Microcephaly, short neck, and a characteristic facies consisting in low anterior and posterior hairlines, arched eyebrows and synophrys, narrow palpebral fissures and long, curly eyelashes are the presenting signs of the syndrome.

Thick, low set and posteriorly rotated ears, flat midface, short broad nose and depressed nasal bridge with anteverted nares, down-turned corners of the mouth and micrognathia are often observed.

High and cleft palate often submucous and dental anomalies may be present. Patients affected by this syndrome often show prenatal and postnatal growth retardation, short stature with short hands and feet and psychomotor delay. Other signs are usually present: hearing loss, scoliosis, cervical malformations and pectus excavatum, early osteoporosis and pyloric stenosis. Patients with Coffin-Siris syndrome show signs of hypertrichosis, sparse scalp hair, bushy eyebrows and eyelashes.

There is almost always an abnormal or delayed dentition, together with ear anomalies and absence of the distal phalanx and nails of the fifth fingers and toes. Mutations in BAF complex genes are the main cause of the syndrome [ 22 , 36 , 37 ]. Aside hypertrichosis, patient with Barber-Say syndrome present atrophic lax skin, macrostomia, broad and coarse eyebrows, an hairy bulbous nasal tip with hypoplastic flaring nostrils, telecanthus and hypoplastic nipples.

Mutations in KMT2A gene have been found to be the cause of the disorder [ 38 — 40 ]. This rare syndrome is characterized by hypertrichosis terminalis, coarse facies, bulbous nose, thickened lips, narrow palpebral fissures, thick intraoral mucosa, high arched eyebrows, mental retardation not always present , large hands, hyperextensible joints, recurrent pericardial effusions and hypotestosteronemia.

Autosomal recessive inheritance has been suggested [ 41 , 42 ]. Hypertrichosis and prominent forehead with low anterior and posterior hairlines, thick eyebrows, hypertelorism, wide nasal bridge and small ears are the main features of the syndrome. Patients also show hypotonia, short stature, markedly advanced bone age, hypoplastic 12th ribs and a dysplastic hip, doughy and redundant skin on hands and hypoplastic middle phalanx of the fifth finger.

Mutations in KMT2A gene complex have been found in the patients affected [ 23 , 43 ]. Patients show neonatal macrosomia, with wide posterior fossa in the skull, a distinctive osteocondrodysplasia, coarse face, cognitive delay and cardiomegaly with cardiomyopathy. The bone involvement is complex with narrow thorax, broad ribs, platyspondyly, hypoplastic idiopathic branches, small obturator foramen, bilateral coxa valga, large medullary canals and generalized osteopenia. Short distal phalanx of the thumbs and of the first toes, delayed bone age and hypertrophy of the first metatarsus are also found.

This syndrome is an autosomal recessive disorder with various dermatological features and systemic manifestations. Types 1 and 2 have been distinguished, with the latter more common and severe, with onset in the neonatal period or in early infancy [ 47 ]. Lipoatrophic diabetes and generalized congenital hypertrichosis are the main features of the syndrome.

Patients present with a distinctive facial appearance with sunken cheeks, large ears, curly scalp hair and external genital hypertrophy [ 48 — 50 ]. Diabetes is insulin-resistant without ketosis. In this disorder, the hair tends to become more pronounced with age. Cognitive delay, corneal opacities, hepatomegaly and cardiac renal abnormalities are reported [ 49 , 50 ].

Other dermatologic features consist of acanthosis nigricans, prominent subcutaneous veins and xantomas. The locus for BSCL has been identified in chromosome 11q13 [ 51 ].

Also known as leprechaunism, DS is a severe form of congenital insulin resistance, due to a mutation in the insulin receptor gene. It is characterized by dwarfism with a peculiar elfin-like face, large eyes, thick lips and low set ears. Patients present with metabolic abnormalities and increased levels of androgens, together with loss of subcutaneous fat with excessive folding of the skin [ 52 ]. Hypertrophy of external genitalia, abdominal distension and slow growth may also be present.

Donohue syndrome shows features similar to Berardinelli Seip syndrome but its course is more severe and insulin resistance is more precocious. The increased early mortality is linked to anomalous energetic metabolism and loss of glucose homeostasis. Tentative treatment with recombinant human IGF1 has been started [ 52 ].

Nosographic delineation of these syndromes has not been defined. Clinical manifestations include dwarfism, with joint and bony abnormalities, peripheral corneal opacities, and coarse facial features [ 53 ]. Localized thickened cutaneous plaques are reported. Bone abnormalities consist of progressive osteolysis affecting the carpal, tarsal and interphalangeal joints.

Involvement of metalloproteinasis2 gene MMP2 gene has been reported [ 54 — 60 ]. RTS is an autosomal dominant disorder characterized by typical features of bird-like facies and hypertelorism, microcephaly, broad thumbs and big toes, cognitive delay and postnatal growth retardation. The syndrome is characterized by multiple congenital anomalies with craniofacial dysmorphism midfacial retraction, protruding forehead and severe cognitive delay. The neck is short, with abundant folds of skin.

The syndrome has been associated with various neurological abnormalities, including cobblestone lissencephaly and epileptic seizures West syndrome type. Radiological bone abnormalities affect the skull, ribs and terminal phalanxes [ 60 , 61 ]. This congenital malformation syndrome is characterized by craniofacial dysostosis mid-facial flattening , underdeveloped genitalia, patent ductus arteriosus and hypoplasia of teeth, and digital defects.

To date, no pathological deletions or duplications have been found [ 62 , 63 ]. In this disorder the face is asymmetric with unilateral maxillar enlargement and with ipsilateral facial hypertrichosis. The teeth are hypoplastic [ 7 ]. Is often associated with cardiac anomalies, hypoplasia of the labia majora, together with abnormalities of the teeth and eyes [ 7 ]. Is a complex cutaneous disorder characterized by hypopigmented macular patches following the Blaschko lines frequently associated with neurological impairment such as cognitive delay and epilepsy.

In one patient, the normal skin presented with hypertrichosis while the hypomelanotic areas did not [ 7 , 64 ]. As discussed above, congenital generalized hypertrichosis is a clinical sign of different disorders. The distribution of hair is usually precocious and rarely progressive. The prognosis is related to the pathological events associated with the hair disorder, in particular to the epilepsy and cardiac or renal anomalies. Congenital generalized hypertrichosis is cause of significant emotional distress for the affected patients and their family.

The cosmetic embarrassment is particularly relevant when the hair is widely distributed over the areas of the body normally uncovered. There are different approaches to the treatment of excess hair, including:. It should be underlined that not all the treatments are effective over the long term, and the choice of therapy should be made taking into consideration such aspects as the location of the excess hair, its association with complex anomalies and the age of the patients.

Cosmetic procedures consist of using bleaching methods to make dark-colored hair less evident or of using different procedures to remove the excess hair, such as trimming, shaving, plucking or waxing. Clinical depilation acts by damaging the hair directly on the skin surface, while electrosurgical epilation, using a fine electric needle inserted into the hair follicle, is more effective. Important results are obtained by intense pulsed light sources and various type of lasers Ruby, Alexandrite, Diode.

Pharmacological treatment consists of topical eflorinithine, a specific and irreversible inhibitor of the enzyme ornithine decarboxylase, which is located within the hair follicle and stimulates hair growth [ 6 , 66 ].

This condition is also known as werewolf syndrome. People suffering from hypertrichosis often suffer mental stress due to embarrassment. Experts believe that hypertrichosis is mainly caused due to mutation in genes and is not related to male hormones. Hypertrichosis is a rare condition that affects one in million people.

With this ratio only 50 people in world are reported to have hypertrichosis. This article explains the causes, symptoms and treatment option for hypertichosis. Hypertrichosis is a condition characterised by excessive hair growth on any part of the body. Hypertrichosis causes abnormal hair growth that may not be androgen-dependant. And, the hair growth is too much compared to other individual of same age, race and sex.

Hypertrichosis is totally different than hirsutism that mainly affects females. In hirsutism females show excessive hair growth in androgen-dependent areas with male pattern distribution.

Hypertrichosis can be present at birth or may develop later in life. The first case of hypertrichosis was documented in the 17th century by Aldrovandus. He identified a person named Petrus Gonzales with hypertrichosis in Originally from the canary island, Petrus Gonzales and his family members including daughters who suffered from hypertrichosis were brought to France.

Over next years some more cases of hypertrichosis were identified. Several scientists studied this rare disorder that later kept evolving with different terminologies as hypertrichosis universalis , hypertrichosis of the dog-men, ambras syndrome or werewolf syndrome. Hypertrichosis can be either inherited or acquired. Hypertrichosis that a baby has since birth is mainly caused due to mutation in genes and is known as Congenital Hypertrichosis. The ape man was believed to carry certain genes that caused excessive body hair.

Over time with evolution these genes disappeared. However, in rare conditions these genes make a reappearance causing Congenital Hypertrichosis. Experts believe that there is excessive stimulation of hair follicles without any abnormal levels of androgens. The most common symptom of any type of hypertrichosis is excessive hair growth. However the density of hair can vary in individuals with different type of hair growth such as lanugo, vellous or terminal hairs.

Lanugo: Lanugo refers to long and unmedullated hairs. This type of hair is very soft and has no pigment. It does not appear distinct against the skin. Lanugo is seen on the skin of new born. It usually goes on its own over some time. However, in case of hypertrichosis lanugo does not disappear and needs treatment. Vellous: Vellous hairs are unmedullated, soft and lightly pigmented. This type of hair is usually present on the new borns face.

Vellous hairs have short hair follicles. Terminal hairs: These are produced by follicles and appear very dense. Terminal hairs contain pigment and hence are dark in colour.