bald spot on zach concerned or not?

[Guest guest]

Years ago developed a bald spot (which we assumed was fungal).

Now (about 6 years later) the hair in that area has much a different

texture and is a different color than the rest of his hair.

I don't have a clue what this means, but it is probably relevant.

Pediatrics. 1999 Feb;103(2):428-33

Hair and skin disorders as signs of mitochondrial disease.

http://pediatrics.aappublications.org/cgi/content/full/103/2/428

Bodemer C, Rotig A, Rustin P, Cormier V, Niaudet P, Saudubray JM,

Rabier D, Munnich A, de Prost Y.

Service de Dermatologie, INSERM U. 12, and Departement de Pediatrie,

Hopital Necker Enfants Malades, Paris, France.

OBJECTIVE: To compare and explore the skin manifestations of

mitochondrial disorders in 14 children with puzzling and unexpected

cutaneous presentations. STUDY DESIGN: One hundred forty children with

mitochondrial disorders who had been under observation in our hospital

for the last 10 years, were carefully examined by the same physicians.

Skin and hair characteristics were investigated by the same

dermatologist. All the children developed an early unexplained

association of symptoms. Metabolic screening for abnormal

oxidative-reduction in plasma and mitochondrial enzyme investigations

confirmed the diagnosis of oxidative phosphorylation disorders.

RESULTS: Fourteen children with mitochondrial disorders (10% of the

original cohort) developed specific hair and skin abnormalities. Their

cutaneous manifestations were similar, and could be classified into

four categories: hair abnormalities, rashes and pigmentation

disorders, hypertrichosis, and acrocyanosis. In 3 cases, skin

disorders constituted the puzzling and unexpected manifestations of

mitochondrial disease. Respiratory chain deficiencies in the cultured

skin fibroblasts of 3 patients and heteroplasmic mitochondrial DNA

rearrangement in the skin fibroblasts of 1 patient indicated that

mitochondrial disorders may be expressed in the skin. CONCLUSION: Hair

abnormalities and pigmented skin eruptions might belong to the broad

spectrum of presenting symptoms of mitochondrial disease. The

association of these dermatologic lesions with unrelated disorders

should lead physicians to consider a diagnosis of mitochondriopathy as

early as possible.

These abnormalities can be divided into four categories:

Alopecia and Hair Shaft Abnormalities (6 Cases) During careful

examination of these children with mitochondrial disorders, we often

noticed a specific type of hair, which was brittle and thick, with a

large diameter. For the present study we only selected children with

obvious abnormalities like alopecia. Hair shaft abnormalities were

consistently observed in samples from different areas of the scalp. By

LM and EM we observed transverse fractures across the hair shaft

through the cuticle and the cortex (trichoshisis), involving hairs

with a tiger tail pattern (patient 1; Fig 1), and hairs displaying

twists (pili torti), longitudinal grooving (Fig 2), cuticle loss, and

trichorrhexis nodosa (Table 1). Amino acid analyses of hairs were

normal in these patients, except in 1 case with the sulfur content of

the hair reduced to more than 50% of its value (patient 1).

[Guest guest]

Years ago developed a bald spot (which we assumed was fungal).

Now (about 6 years later) the hair in that area has much a different

texture and is a different color than the rest of his hair.

I don't have a clue what this means, but it is probably relevant.

Pediatrics. 1999 Feb;103(2):428-33

Hair and skin disorders as signs of mitochondrial disease.

http://pediatrics.aappublications.org/cgi/content/full/103/2/428

Bodemer C, Rotig A, Rustin P, Cormier V, Niaudet P, Saudubray JM,

Rabier D, Munnich A, de Prost Y.

Service de Dermatologie, INSERM U. 12, and Departement de Pediatrie,

Hopital Necker Enfants Malades, Paris, France.

OBJECTIVE: To compare and explore the skin manifestations of

mitochondrial disorders in 14 children with puzzling and unexpected

cutaneous presentations. STUDY DESIGN: One hundred forty children with

mitochondrial disorders who had been under observation in our hospital

for the last 10 years, were carefully examined by the same physicians.

Skin and hair characteristics were investigated by the same

dermatologist. All the children developed an early unexplained

association of symptoms. Metabolic screening for abnormal

oxidative-reduction in plasma and mitochondrial enzyme investigations

confirmed the diagnosis of oxidative phosphorylation disorders.

RESULTS: Fourteen children with mitochondrial disorders (10% of the

original cohort) developed specific hair and skin abnormalities. Their

cutaneous manifestations were similar, and could be classified into

four categories: hair abnormalities, rashes and pigmentation

disorders, hypertrichosis, and acrocyanosis. In 3 cases, skin

disorders constituted the puzzling and unexpected manifestations of

mitochondrial disease. Respiratory chain deficiencies in the cultured

skin fibroblasts of 3 patients and heteroplasmic mitochondrial DNA

rearrangement in the skin fibroblasts of 1 patient indicated that

mitochondrial disorders may be expressed in the skin. CONCLUSION: Hair

abnormalities and pigmented skin eruptions might belong to the broad

spectrum of presenting symptoms of mitochondrial disease. The

association of these dermatologic lesions with unrelated disorders

should lead physicians to consider a diagnosis of mitochondriopathy as

early as possible.

These abnormalities can be divided into four categories:

Alopecia and Hair Shaft Abnormalities (6 Cases) During careful

examination of these children with mitochondrial disorders, we often

noticed a specific type of hair, which was brittle and thick, with a

large diameter. For the present study we only selected children with

obvious abnormalities like alopecia. Hair shaft abnormalities were

consistently observed in samples from different areas of the scalp. By

LM and EM we observed transverse fractures across the hair shaft

through the cuticle and the cortex (trichoshisis), involving hairs

with a tiger tail pattern (patient 1; Fig 1), and hairs displaying

twists (pili torti), longitudinal grooving (Fig 2), cuticle loss, and

trichorrhexis nodosa (Table 1). Amino acid analyses of hairs were

normal in these patients, except in 1 case with the sulfur content of

the hair reduced to more than 50% of its value (patient 1).

[Guest guest]

I must have missed the original post on this subject. I have noticed a small bald spot on Chelsea, just behind her left ear. It seemed to start growing hair after she started taking biotin. But then it came back and even seemed a little bigger. I haven't looked in awhile, so I don't know if it's still there or not. She has long hair so, it is most noticeable when her hair is wet.

e, Chelsea's mom, Atypical Rett Syndrome (FKA nonspecific mito)

[Guest guest]

I must have missed the original post on this subject. I have noticed a small bald spot on Chelsea, just behind her left ear. It seemed to start growing hair after she started taking biotin. But then it came back and even seemed a little bigger. I haven't looked in awhile, so I don't know if it's still there or not. She has long hair so, it is most noticeable when her hair is wet.

e, Chelsea's mom, Atypical Rett Syndrome (FKA nonspecific mito)