the dynamic natural skin care: congenital

Showing posts with label congenital. Show all posts

Wednesday, March 25

Giant congenital melanocytic nevus - Giant hairy nevus

Home › Melanocytic nevus › Giant hairy congenital melanocytic nevus.
What is congenital melanocytic nevus?
The congenital melanocytic nevus (CMN) is a dark, pigmented, often hairy patch of skin. A congenital melanocytic nevus is present at birth or appears soon after birth.

It is the benign proliferation of a variant of melanocytes known as nevus cells. They are anomaly in embryogenesis and are considered as malformations or hamartomas.

The congenital melanocytic nevus lesions, are classified according their sizes. There are several classification systems proposed, but the system proposed by Kopf et al. is the most accepted. The CMN lesion present at birth that will reach a diameter of 20 cm or more in adulthood is classified as giant congenital melanocytic nevus (aka bathing trunk nevus, garment nevus or giant hairy nevus). The CMN lesions having a diameter less than 2 cm are considered as small-sized and those having a diameter more than 2 cm but less than 20 cm are considered as medium-sized.

Giant congenital melanocytic nevus (GCMN)

The giant congenital melanocytic nevus is a rare entity and its incidence is about one in every 20,000 births.

Psychosocial issues

The unsightly appearance of the hairy nevi is psychosocially devastating for the affected person and his family members. The psychological consequences of the hairy nuvi in visible areas like face are many. Nearly 25% of the patients suffer from emotional or behavioral problems. Nearly 30% of patients have to face social problems. The impaired self-image caused by the presence of the giant hairy CMN, the anxiety over the risk of complications and the unsightly appearance contribute in compounding the psychological symptoms in the patients and other family members.

Pathogenesis

The giant congenital melanocytic nevus lesion originates during 5th and 24th week of gestation.

Giant hairy congenital melanocytic nevus in a young girl with signs of neurocutaneous melanosis

Giant hairy congenital melanocytic nevus in a young girl with neurocutaneous melanosis

It is due to a morphological error occurring in the neuroectoderm during embryogenesis. The abnormal accelerated proliferation of the precursor cells of melanocytes (melanoblasts) leads to the pigmented and hairy nevus. The hepatocyte growth factor is a cytokine regulator of epithelial cells and overexpression of this factor can lead to discrepancies and disparities in differentiation, proliferation and migration of melanoblasts/melanocytes.

The size of the hairy nevus depend upon how early the accelerated proliferation of cells of melanocyte lineage has started. The melanocyte proliferation commencing after birth produces acquired melanocytic nevus. A small CMN will result if the proliferation of melanocytes in the dermal-epidermal junction begins shortly before birth. Giant and medium-sized nevi would develop when the proliferation starts, during migration of melanoblasts from the neural crest to epidermis. The giant congenital hairy nevus will be large and deep seated if the proliferation starts during the embryonic or early fetal periods.

Progression over time

The progression over time of the hairy lesions is unpredictable. Some GCMN may get lightened over time whereas some may darken. As the hairy lesion progresses the pigmentation may get more heterogeneous or homogeneous. The hairy growth may increase over time. In some patients the hairy growth may disappear. In very rare cases the giant congenital hairy lesions may spontaneously regress. In some cases it was reported that the lesions darkened through adolescence and then significantly lightened. The surface undergoes changes such as increase in roughness, thickness, hairy growth and appearance of nodules.

Health risks from giant congenital melanocytic nevus

The giant congenital melanocytic nevus in some cases develop into malignant melanoma or neurocutaneous melanosis with melanocytic tumors in the leptomeninges. The estimated lifetime risk of developing melanoma varies from 5 to 10%. There is the possibility for simultaneous occurrence of disorders like diffuse lipomatosis, atrophy and asymmetry of limbs, scoliosis, urinary tract anomalies, cafe-au-lait spots and Mongolian spots.

Melanoma associated with hairy giant congenital melanocytic nevus

The melanoma affecting patients with GCMN occurs usually in the dermis or in deeper layers. Most of other melanomas arise in the epidermis. In a study of 289 patients with hairy giant congenital melanocytic nevus, Dedavid et al. found 67 cases of melanoma. 50.7% of these melanoma appeared on the lesions. 3% of the melanomas appeared on clinically normal skin. 31.3% of them were primary central nervous system (CNS) tumors and 15% were metastatic tumors spread from unknown primary site.

Patients having multiple satellite nevi and hairy giant congenital melanocytic nevus on locations such as the back, neck or head have the increased risk of developing melanoma. The probability of a GCMN patient developing melanoma is more in the early childhood. Dedavid et al. found that 50% of the melanomas were diagnosed before five year age. Benign tumors may also develop on the hairy melanocytic nevus.

Neurocutaneous melanosis (NCM)

Neurocutaneous melanosis is a congenital disorder associated with the presence of giant congenital nevus on the skin and melanocytic tumors in the leptomeninges. These lesions occur in brain and spinal cord. Nearly 50% of the patients with NCM develop malignancy. It occurs in the form of leptomeningeal melanoma. The cause is believed to be related to abnormal development of melanoblasts and mutations of the NRAS gene. Some of the symptoms of NCM are, increase in intracranial pressure, seizures, vomiting, headache and papilledema. There is no effective treatment for the disorder.

Treatment

Several treatment options are available for treating hairy congenital melanocytic nevus. The age of the patient, size and location of the lesion and risk of melanoma are to be considered while selecting a treatment option. Surgery, dermabrasion, skin curettage, chemical peels and laser treatment are the options available.

Advertisements

Friday, December 26

Congenital hypertrichosis

Home › What is hypertrichosis › Congenital hypertrichosis.
What is congenital hypertrichosis?
Hypertrichosis is the excessive growth of hair over the body. Congenital hypertrichosis (CH) is the presence of excessive hair growth at birth.

Congenital hypertrichosis may be present as an inherited genetic disorder. Congenital hypertrichosis may also occur as a result of spontaneous mutation during fetal growth. CH may concur and coexist with many hereditary medical conditions.

Types of congenital hypertrichosis

The excessive growth of hair is classified as congenital hypotrichosis when it is present at birth. Acquired hypotrichosis is the appearance of excessive hair growth later in the life. CH may involve terminal, Vellus or lanugo hair. CH may be generalised covering the entire body or localized and circumscribed. Some of the many forms of congenital hypertrichosis are discussed below.

Generalized congenital hypertrichosis (GCH)

Various types of genetic inheritance and spontaneous mutation can cause GCH. The entire body may be covered sparing, mucous membranes, palms and soles. The excessive growth of hair may involve either terminal hair or lanugo hair.

Congenital hypertrichosis lanuginosa (CHL)

In congenital hypertrichosis lanuginosa, the entire body of the newborn is covered by the lanugo hair.

Ambras Syndrome

Ambras Syndrome is an extremely rare type of congenital hypertrichosis lanuginosa, characterized by the vellus-type hair covering the entire body. Abnormalities like dental anomalies, triangular, coarse face, bulbous nasal tip, delayed tooth eruption, absence of teeth, glaucoma, pyloric stenosis, photophobia are associated with Ambras syndrome.

X-linked generalized congenital hypertrichosis (X-GCH)

X-GCH occurs very rarely. The excessive terminal hair growth was mapped to chromosome Xq24-q27.1 in a Mexican family. Terminal hair covers the face, trunk and limbs, sparing mucosa, soles and palms. It may be associated with medical conditions such as, gingival hyperplasia, scoliosis, and spina bifida.

Cornelia de Lange Syndrome (CDLS)

CDLS is a genetic disorder present from birth. The disorder can occur due to mutation in genes NIPBL, SMC1A or SMC3. The disorder is characterized by thick and convergent eyebrows (synophrys), thick and long eyelashes, and low hairline. Vellus hair hypertrichosis of trunk, posterior neck, sacrum and elbows is seen. It may be associated with abnormalities such as cutis marmorata, upturned nostrils, depressed nasal bridge, low set ears, small and irregular teeth, high palate and bifid uvula. The patients may have short and abnormal arms, hands and feet. They may suffer from severe mental retardation.

Localized congenital hypertrichosis

Congenital localized hypertrichosis is a notable feature of congenital melanocytic nevus, congenital Becker nevus, Hypertrichosis cubiti, smooth muscle hamartoma and nevoid hypertrichosis. The localized abnormal hair growth may be at a single site or just a few sites.

Congenital melanocytic nevus (CMN)

Congenital melanocytic nevus (CMN) is a type of melanocytic nevus found in newborns. CMN is usually larger than the acquired melanocytic nevus. The lesion may be covered by excessive growth of terminal hair. There are three types of CMN. Small-sized congenital nevocytic nevus has a diameter less than 2 cm. Medium-sized CMN has a diameter more than 2 cm but less than 20 cm. Nevus pigmentosus et pilosus (giant nevus) is more than 20 cm in diameter with dark pigment and terminal hypertrichosis.

In about 2% to 45% of patients with giant melanocytic nevi at birth, neurocutaneous melanosis is involved. Neurocutaneous melanosis (NCM) is characterized by melanocytic nevi on the skin and melanocytic tumors in the leptomeninges of the central nervous system. Nearly half of the patients with neurocutaneous melanosis may develop malignancy in the form of leptomeningeal melanoma. Early embryonic, postzygotic somatic mutations in the NRAS gene are implicated in the pathogenesis of NCM.

Hypertrichosis cubiti

Hypertrichosis cubiti, also known as hairy elbows syndrome, is a rare symmetric, localized, congenital, circumscribed hypertrichosis with long vellus hair occurring on the elbow (extensor surfaces). Both familial and sporadic forms have been reported. Partial or complete resolution during puberty is reported. A very high percentage of hair in the elbow appear to be in the anagen phase.

The hairy elbows syndrome may in some cases have associated abnormalities. Short stature or other physical abnormalities such as dysmorphic facial features, microcephaly, joint hyperlaxity, thin-long-webbed neck and mental retardation have been associated with hypertrichosis cubiti. Autosomal dominant as well as autosomal recessive inheritance is postulated in the pathogenesis.

Congenital smooth muscle hamartoma

Smooth muscle hamartomas are caused by the benign proliferation of smooth muscle bundle within the dermis. It is an uncommon malformation of the pilar smooth muscle, often involving the back and lower limbs. These lesions typically appear as a skin colored or lightly pigmented patch or plaque with hypertrichosis of vellus hair.

Becker's nevus

Becker's nevus is due to an overgrowth of the epidermis, melanocytes and hair follicles. Though most often it is seen as an acquired disorder with terminal hypertrichosis, it may also be present at birth. The pathophysiology of Becker's nevus remains unclear. A case was reported wherein the disorder had genetic association. A 16 month boy had a lesion on his right shoulder and a similar lesion existed on the right shoulder of his father.

Nevoid Hypertrichosis

Nevoid Hypertrichosis usually appears as a solitary patch of terminal hair without other abnormalities anywhere in the body. If present in lumbosacral area, differential diagnosis is required to rule out faun tail deformity conditions like, spina bifida occulta and diastematomyelia.

Lumbosacral hypertrichosis

Lumbosacral hypertrichosis is also known as faun tail deformity. This malformation is associated with cutaneous anomalies such as sacral dimple, lipoma, port-wine stain, hypertrichosis or dermoid cyst. It is also associated with bone and spinal cord defects such as spina bifida occulta, diastematomyelia, myelomeningocele, and vertebral abnormalities.

Hairy palms and soles

Hairy palms and soles is a bilaterally symmetric, hereditary hypertrichosis affecting the palms and soles. It is an autosomal dominant inheritance. The hair follicles are normal and the children and women have vellus hair. The excessive hair growth is androgen-sensitive and in boys the vellus hair becomes terminal at puberty.

Anterior cervical hypertrichosis

The cause of this congenital disorder can be autosomal dominant, autosomal recessive or X-linked chromosomal mutations. Excessive hair growth is observed on the neck of the affected individuals. In the autosomal recessive mutation, peripheral neuropathy is observed.

Advertisements

Friday, September 12

Hypotrichosis

Home › Short anagen syndrome › Hypotrichosis - Congenital hypotrichosis - Eyelash hypotrichosis.

What is hypotrichosis?

Hypotrichosis is the presence of less than the normal amount of hair on the head, eyelashes or body. Hypotrichosis disorders are a broad spectrum of hair loss conditions.

They are generally congenital and hereditary. The disorders are present at the time of birth or manifest in infancy and may remain with the affected patients throughout their lives.

In alopecia, the hair which is already present on the scalp or body is lost partially or wholly. However hypotrichosis is a state of hair loss right from the birth. The normal terminal hair may get replaced by soft, short and unpigmented vellus hair. Most of the congenital depilations are caused by defective embryonic growth or genetic aberrations. There is no known standard treatment for these hypotrichosis hair loss conditions.

These hypotrichosis disorders coexist with many other physical or mental problems. Disorders like Graham-Little syndrome, Hallermann–Streiff syndrome, Ofuji syndrome, congenital aplasia, alopecia triangularis, papular atrichia, metaphyseal chondrodysplasia, EEM Syndrome and cartilage-hair hypoplasia, manifest with the symptoms of hypotrichosis. There are hundreds of genetic congenital depilation disorders.

Though these hypotrichosis disorders are commonly generalized, in some cases depilation lesions may occur at single or multiple sites. The severity of the congenital hair loss may vary depending upon the afflicting disorder and the patient's health status.

Hypotrichosis causes

The basic causes of these types of congenital hair loss are defective embryonic growth and genetic aberrations. There are hundreds of genetic hypotrichosis disorders.

Congenital and hereditary hypotrichosis

There are many hereditary and congenital forms of hypotrichosis. We may consider a few of them to understand the complex diversity of these genetic disorders.

Hereditary hypotrichosis simplex (HHS) affected patients have normal hair at birth, but with progress of age hair is diffusely thinned. There is progressive hair follicle miniaturization. This congenital disorder is inherited either as an autosomal recessive trait or as an autosomal dominant trait. There is thinning of body hair, axillary hair, and pubic hair. The hair shafts of the eyebrows, eyelashes and male beard are found to be normal.

Localized autosomal recessive hypotrichosis affects both the scalp and body hair. In this congenital disorder, hairs get sparse, become fragile and break easily. Though scalp, eyebrows and eyelashes may be affected, beard, pubic and axillary hairs are generally spared. The patients may suffer from follicular papules, erythema and pruritus.

Marie Unna type of hypotrichosis (hereditary trichodysplasia) is characterized by the presence of a twisting hair dystrophy. This congenital hereditary disorder was reported by Marie Unna. Hairs of the scalp, body, eyebrows and eyelashes are involved and the disorder can progress into irreversible universal alopecia.

Eyelash hypotrichosis

In this disorder, there is inadequate or absence of eyelash. Loss of eyelash is not merely a cosmetic and aesthetic issue like most of us think, but is a medical condition.

The depilation of eyelashes may be congenital and genetic. Certain diseases, cancer treatment, radiation, chemotherapy and certain neurotic habits can cause the loss of eyelashes. The absence of eyelashes mars the facial appearance. But there is a silver lining. Ophthalmic prostaglandin and prostamide analogs are used in the treatment of glaucoma. Incidentally these ocular hypotensive agents have been found to cause hypertrichosis (excessive growth of hair) of eyelashes. The use of bimatoprost (prostaglandin analog) 0.03% solution was approved by the US Food and Drug Administration (FDA) for the treatment of hypotrichosis of the eyelashes.

Congenital hypotrichosis treatment

There is no standard treatment available for these types of congenital hair loss. Hair loss of the eyelashes has been successfully treated with ophthalmic prostaglandin and prostamide analogs.

Advertisements

Reference:
1.Simon K Law. Bimatoprost in the treatment of eyelash hypotrichosis. Clin Ophthalmol. 2010; 4: 349–358.

Interesting topics in the natural skin care:
Idiopathic guttate hypomelanosis treatment.
Stratum corneum function.
Reticular layer of dermis.
Idiopathic guttate hypomelanosis.
Baby milk spots.
Tactile defensiveness.
White discoloration on skin.
Types of skin discoloration.
Black discoloration of skin.
Silver blue skin.
Mongolian blue spot.
Orange skin discoloration.

Current topic on natural skin care: Hypotrichosis (congenital - eyelash) and treatment.

Get glowing skin complexion. Remove acne scars and blemishes from face.